Search Criteria: Research Area is "Sensorineural Research: Eye Defects"
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 000664 | C57BL/6J | Level 1 |
| C57BL/6 is the most widely used inbred strain. It is commonly used as a general purpose strain and background strain for the generation of congenics carrying both spontaneous and induced mutations. Although this strain is refractory to many tumors, it is a permissive background for maximal expression of most mutations. C57BL/6J mice are used in a wide variety of research areas including cardiovascular biology, developmental biology, diabetes and obesity, genetics, immunology, neurobiology, and sensorineural research. C57BL/6J mice are also commonly used in the production of transgenic mice. Overall, C57BL/6 mice breed well, are long-lived, and have a low susceptibility to tumors. Primitive hematopoietic stem cells from C57BL/6J mice show greatly delayed senescence relative to BALB/c and DBA/2J. This is a dominant trait. Other characteristics include: 1) a high susceptibility to diet-induced obesity, type 2 diabetes, and atherosclerosis; 2) a high incidence of microphthalmia and other a ..... For more information please see the full phenotype on the strain data sheet | ||
| 000671 | DBA/2J | Level 2 |
| DBA/2J is a widely used inbred strain that is valuable in a large number of research areas, including cardiovascular biology, neurobiology, and sensorineural research. Its characteristics are often contrasted with those of the C57BL/6J inbred strain (Stock No. 000664). DBA/2J mice show a low susceptibility to developing atherosclerotic aortic lesions (20 to 350 um2 atherosclerotic aortic lesions /aortic cross-section) following 14 weeks on an atherogenic diet (1.25% cholesterol, 0.5% cholic acid and 15% fat). They also exhibit high-frequency hearing loss beginning roughly at the time of weaning/adolescence (between three to four weeks of age) and becoming severe by two to three months of age. The age related hearing loss 8 mutation arose spontaneously in DBA/2J between 1951 and 1975. This strain possesses three recessive alleles that cause progressive cochlear pathology initially affecting the organ of Corti. Decreasing anteroven ..... For more information please see the full phenotype on the strain data sheet | ||
| 004337 | 129(Cg)-Foxg1tm1(cre)Skm/J | Repository- Live |
| This strain expresses Cre recombinase from the endogenous Foxg1 locus. Forkhead box G1 is required for telencephalon development and is expressed specifically in the telencephalon and discrete head structures. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in tissue-specific deletion of the target. Recombination occurs in the telencephalon, anterior optic vesicle (developing lens and retina), otic vesicle, facial and head ectoderm, olfactory epithelium, mid-hindbrain junction and pharyngeal pouches. Mice that are homozygous for the targeted mutation die perinatally. Heterozygous mutant mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain represents a model that may be useful in studies of telencephalic development. | ||
| 001678 | AXB6/PgnJ | Repository- Live |
| The AXB and BXA set of RI strains are useful in the genetic analysis of several complex diseases including cardiovascular disease, diabetes, cancer, cleft palate, and hydrocephalus. The individual strains within the RI set also differ in their susceptibility to infectious diseases and in their responses to alcohol, stress, and endotoxin. The strain distribution pattern (SDP) for both the AXB and BXA RI strains is available through the Mouse Genome Informatics Recombinant Inbred Strain Distribution Patterns Query Form | ||
| 001809 | B6-Aw-J.Cg-EdaTa-6J +/+ ArTfm/J | Repository- Live |
| Testicular feminization (ArTfm) is a dominant spontaneous mutation on the X chromosome. Hemizygous male mice are outwardly female in appearance except that the vagina does not open until 3 months of age if at all. Male reproductive development is abnormal leading to very small testes, and the absense of vas deferens, the epididymis, and male accessory glands. Spermatogonia and Sertoli cells are present in the testes, but spermatogenesis does not proceed past meiotic prophase. Leydig cells, which normally produce androgen in males, fail to develop normally. This strain is also segregating for the tabby 6J mutation (EdaTa-6J) that affects both the coat color and hair pattern growth. The tabby mutation is maintained in repulsion with the testicular feminization mutation and is used as a coat color marker to assist in identifying resulting genotypes obtained from matings. | ||
| 010635 | B6.129(FVB)-Alcamtm1Jawe/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Embryonic spinal motor nerve bundles exhibit modest defects in fasciculation and, in some cases, abnormal axon trajectories form bridges or turn at right angles to adjacent nerves. However, adult motor function appears grossly normal. A similar defect is observed in retinal ganglion cell axons of the optic fiber layer, in which axons appear fanned-out and defasciculated with wide bundles. Homozygotes exhibit two types of retinal dysplasias characterized by photoreceptor cell evaginations or protrusions from the outer nuclear layer and retinal folding (invagination) inside the orb. The donating investigator indicates that this phenotype is less commonly observed on the C57BL/6 background. ALCAM is also believed to be important for immune system functioning, including T cell activation, and is a marker of tumor progression in numerous ..... For more information please see the full phenotype on the strain data sheet | ||
| 013733 | B6.129-Accn2tm1Wsh/J | Repository- Live |
| Homozygous Accn2 (amiloride-sensitive cation channel 2, neuronal; also called ASIC1a) targeted mutant mice display alterations in conditioned and unconditioned fear behaviors, eye blink conditioning, long term potentiation, learned helplessness, seizure termination, retinal function, pain perception, and neuronal death in several neurodegnerative disorders. Transcripts and protein are lacking in central and peripheral nervous system tissue. This strain may be useful in studies of synaptic transmission, synaptic plasticity, depression, fear, anxiety, learning and memory. | ||
| 013127 | B6.129-Accn3tm1Wsh/J | Repository- Live |
| Homozygous Accn3 (amiloride-sensitive cation channel 3) targeted mutation mice display alterations in normal and pain-associated cutaneous mechanosensitivity and inflammatory pain sensation, visual loss associated with night blindness, and age-induced hearing loss. Mice show increased sensitivity of mechanoreceptors detecting light touch. Sensitivity of mechanoreceptors responding to noxious pinch is decreased as is the response of acid- and noxious heat-sensitive nociceptors. No mRNA is detectable by RT-PCR in the dorsal root ganglion. Protein is not found in trigeminal and dorsal root ganglion. This strain may be useful in further elucidating the role of this gene in mechanosensation. | ||
| 006084 | B6.129P2(Cg)-Foxg1tm1(cre)Skm/J | Repository- Live |
| This strain expresses Cre recombinase from the endogenous Foxg1 locus. Forkhead box G1 is required for telencephalon development and is expressed specifically in the telencephalon and discrete head structures. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in tissue-specific deletion of the target. Recombination occurs in the telencephalon, anterior optic vesicle (developing lens and retina), otic vesicle, facial and head ectoderm, olfactory epithelium, mid-hindbrain junction and pharyngeal pouches. Mice that are homozygous for the targeted mutation die perinatally. Heterozygous mutant mice are viable, fertile, normal in size. On the C57BL/6 background, forebrain volume in heterozygotes is substantially reduced especially in the cerebral cortex (40.7%), striatum (29.7%), and hippocampus (18.6%). In the adult, the thalamus is reduced in volume by 21.6%. This mutant mouse strain represents a model that ma ..... For more information please see the full phenotype on the strain data sheet | ||
| 013787 | B6.129S1-Abcc6tm1Jfk/J | Repository- Live |
| Mice that are homozygous for this targeted mutation develop patchy, progressive mineralization of the dermis, kidneys, eyes, arteries, heart and subcutaneous tissues, mimicking the human disease symptoms of pseudoxanthoma elasticum. Mineralization of connective tissue capsule surrounding vibrissae is detectable at 5 weeks of age. Mineralization is associated with collagen fibrils and elastic fibers. Oxidative stress, as indicated by lipid peroxidation and protein oxidation, is higher in liver tissue and serum of mutant mice when compared to wildtype controls. Antioxidant diet reduces the oxidative stress levels in knock out mice, but does not prevent ectopic mineralization. The severity of mineralization can be altered by mineral intake as a diet with elevated magnesium levels prevents pathological connective tissue mineralization in mutants. Serum matrix gla protein (MGP) levels are reduced in homozygotes and the protein is under-carboxylated with diminished activity. Fetuin-A ..... For more information please see the full phenotype on the strain data sheet | ||
| 006233 | B6.129S1-Casp3tm1Flv/J | Repository- Live |
| On this C57BL/6 congenic background, homozygotes are viable, fertile, and reach adulthood, but females reported display suboptimal mothering instincts. Functional endogenous protein and mRNA are absent from all tissues tested. Homozygous mice are resistant to in vivo cerebral ischemia/reperfusion and in vitro oxygen-glucose deprivation. Ovaries from female homozygotes show aberrant atretic follicles associated with a granulosa cell-intrinsic defect in apoptosis as well as defective corpus luteum regression. Homozygous mice are congenitally deaf with hair cell defects in the Organ of Corti. Optic lens formation/morphology also is abnormal with cataracts at the anterior lens pole. Of note, these mice lack the embryonic/perinatal-lethal brain pathology observed in mutant mice on the 129 and mixed B6;129 genetic backgrounds. These mutant mice may be useful in studies of apoptosis, ovarian follicle and corpus luteum development, and eye and ear development. | ||
| 010616 | B6.129S1-Jag1tm1Grid/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, and normal in size. No gene product (mRNA or protein) is detected by RT-PCR or Western blot analysis of homozygous embryos, aged embryonic day 10. Homozygotes have an embryonic lethal phenotype, with defective vasculature formation in the embryo and yolk sac and widespread hemorrhaging at embryonic day 10.5. Heterozygotes exhibit iris coloboma, irregular/off center pupils and corneal opacity. | ||
| 010620 | B6.129S1-Notch2tm1Grid/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Due to alternative splicing, 2 in-frame gene products (mRNA) are detected by RT-PCR analysis of homozygous embryos. The mutant transcripts would produce proteins with one or two EGF repeats deleted. Levels of the mutant transcripts are similar to the wildtype transcript level. This targeted allele is a hypomorph. Homozygotes are neonatal lethal due to developmental defects in the kidney, heart and eye vasculature. Homozygous neonates exhibit hypoplastic kidneys, with vasculature lesions at the cortical surface, and lack mature glomeruli. Bilateral microphthalmia, with retrolenticular hyperplasia, is observed in homozygotes. At age embryonic day 11.5, some homozygous embryos exhibit delayed growth, pericardial effusion and widespread hemorrhaging. Homozygous embryos that survive past embryonic day 11.5 display myocardial hy ..... For more information please see the full phenotype on the strain data sheet | ||
| 006141 | B6.129S2-Thbs1tm1Hyn/J | Repository- Live |
| Mice homozygous for this targeted mutation are viable and fertile, with an approximate 20% decrease in embryo/neonate viability and a mild and variable lordotic curvature of the spine apparent from birth. Homozygous mice have an abnormal, but no full length transcript in multiple tissues. Western analysis confirmed the absence of the protein in platelets. Homozygotes exhibit an increase in the number of circulating white blood cells. During the first four to ten weeks of life, homozygotes exhibit patches of acute and organizing pneumonia. At later time points, there is considerable hyperplasia of the various epithelial cell lineages. Mutant mice also have an increased number of retinal endothelial cells and inappropriate remodeling and maturation of retinal vasculature following injury. On the FVB/N background, spontaneous tumor growth and vasculature are significantly increased compared to wildtype. Mutant mice may be useful in studies of inflammatory responses in the lungs, eye, and ..... For more information please see the full phenotype on the strain data sheet | ||
| 016883 | B6.B10(D2)-Grm6nob3/Boc | Repository- Live |
| Although retinal sections are histologically normal, electroretinogram assessment of homozygotes shows near-normal a-wave but absent both scotopic and photopic b-waves. The contrast sensitivity and spatial frequency thresholds are reduced. Retinal ganglion cell ON responses have a longer latency than normal and fewer retinal ganglion cells respond to the bright phase of a full-field stimulus. There are fewer OFF-center retinal ganglion cells that have an ON response to a full-field stimulus, which is distinct from findings in mice homozygous for the no b-wave 4 (nob4) allele. | ||
| 010536 | B6.Cg-Tg(Pcp2-cre)3555Jdhu/J | Repository- Live |
| Hemizygous mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express Cre recombinase under the control of the mouse Purkinje cell protein (Pcp2). Cre recombinase expression is detected in Purkinje cells of the cerebellar folia and retinal bipolar cells. Expression was not found in spinal cord, heart, liver, kidney or cornea. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in deletion of the targeted gene in the offspring. This mutant mouse strain may be useful in studies of the nervous system, particularly Purkinje cells and retinal bipolar cells. | ||
| 004293 | B6;129-Shhtm2Amc/J | Repository- Live |
| Mice that are homozygous for the Shhtm2Amc targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This conditional mutant contains two loxP sites flanking exon 2 of the targeted allele. Cre-mediated recombination excises exon 2 and some surrounding intronic sequence, generating a null allele. When the conditional mutant is crossed with a ubiquitously-expressing Cre recombinase carrier to remove Shh activity in the early embryo, the resulting phenotype resembles the Shh null mutation. These conditional mutant mice may be mated to strains expressing Cre recombinase to study the effects of temporal and tissue-specific ablation of the targeted allele. This mutant mouse strain represents a model that may be useful in studies of developmental defects resulting from disruption of Shh-dependent pathways.
When bred to a strain expressing Cre recombinase under the control of a tet ..... | ||
| 000314 | B6CBACa Aw-J/A-EdaTa/J-XO | Repository- Live |
| XO or monsomy X mice lack a second sex chromosome. The condition is inherited as an X-linked dominant trait with male lethality. XO mice exhibit some degree of growth retardation, high frequency hearing loss, reduced thyroid activity, reduced body temperature and some behavioral abnormalities. Unlike Turner Syndrome in humans, XO females are fertile. The two-step mating system for this strain (described under Mating System) incorporates the X-linked coat color marker tabby so that mice can be identified by a combination of coat color and sex. This strain may be useful for studies of Turner Syndrome or X-linked recessive alleles. | ||
| 000501 | B6CBACa Aw-J/A-Aifm1Hq/J | Repository- Live |
| Harlequin mice exhibit paucity of fur resulting in near baldness in hemizygous males and homozygous females. Heterozygous females have a patchy absence of hair that is not always obvious, since the degree of hair loss is notably less than 50%. Homozygotes and hemizygous males weigh less than heterozygous or wild type controls. Ataxia is noticeable by 5 months and progresses as the mice age. Initially the ataxia manifests itself as a side-to-side, unsteady gait with a lateral tremor visible at rest. A delayed cerebellar cortical atrophy has been characterized in these mutants, with an apoptotic loss of granule cells beginning at 4 months of age and a necrotic loss of Purkinje cells occurring subsequently. The granule cells re-enter the cell cycle, but the Purkinje cells do not, supporting the postulate that inappropriate cell cycle re-entry of terminally differentiated neurons can induce apoptosis. Cell loss is greater in the caudal lobules of the cerebellum and is extensive by 9 to 11 ..... For more information please see the full phenotype on the strain data sheet | ||
| 000391 | B6EiC3Sn a/A-Pax6Sey-Dey/J | Repository- Live |
| Mice homozygous for the spontaneous semidominant Dickie's small eye mutation(Pax6Sey-Dey) die during embryogenesis. Heterozygous mutant mice are characterized by an overall small body size, small eyes with coloboma, small or lacking lens with cataract, abnormal folding of the retina and reduction of the pigment layer. The anterior chamber is usually missing. Mutations in the Pax6 gene lead to an impairment of axonal growth and differentiation, and delay migration of preneuronal cells. Optic nerve cross-sectional area and fiber count are decreased in these mutant mice, but probably indirectly as a consequence of reduced neural retina size. Formation of lens and of nasal cavity placodes are dependent on normal Pax6 expression. | ||
| 002802 | C3.BLiA Pde6b+-Krd/J | Repository- Live |
| This is a semidominant, homozygous lethal mutation. | ||
| 006038 | C3H/HeDiSn-Dscam2J/GrsrJ | Repository- Live |
| Mice homozygous for the Dscam2J mutation can be identified as early as 2 days of age resting on their backs instead of their stomachs and struggling to maintain balance. They develop overt thoracic kyphosis and a domed skull and appear to walk on their toes. Homozygotes fail swim tests wherein they are unable to swim in a straight line, curl up their bodies, and sink to the bottom. However, they have normal auditory brain stem responses indicative of normal cochlear hair cell function and connectivity. Degeneration of spinal joints, dystrophic axons in the lumbar spinal cord and small areas of degenerating epaxial skeletal muscle are found in aging homozygotes. On this background, in the presence of the Pde6brd1 mutation, the inner nuclear layer and retinal ganglion layer are disorganized, a phenotype beyond the retinal degeneration inherent in the background. Additionally, the dopaminergic amacrine cells have fasciculated neurites and are orga ..... For more information please see the full phenotype on the strain data sheet | ||
| 013148 | C57BL/6-Tg(Pdgfra-cre)1Clc/J | Repository- Live |
| Hemizygous Pdgfra-cre mice are viable and fertile, with cre expression directed to retinal Muller glial cells by the mouse Pdgfra (platelet derived growth factor receptor, alpha polypeptide) promoter. Expression is predominantly in the cell bodies of the inner nuclear layer (INL) of the retina, but some expression may be observed in the outer nuclear layer (ONL) and in the ganglion cell layer (GCL). The donating investigator indicates that although not examined, cre may also be active in many types of central nervous system glial cells. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the floxed sequence(s) in the offspring. | ||
| 006912 | C57BL/6-Tg(Tcra2D2,Tcrb2D2)1Kuch/J | Repository- Live |
| Mice hemizygous for this "2D2 TCR" (or MOG 35-55 specific TCR) transgene are viable and fertile. The myelin oligodendrocyte glycoprotein (MOG)-specific transgenic T cells are not deleted nor tolerized and are functionally competent. The majority of thymocytes in 2D2 TCR mice express high and intermediate levels of the transgenic T cell receptor (TCR), indicating efficient positive selection of transgenic T cells. The majority of CD4+ splenocytes express the transgenic TCR (as defined by Valpha3.2 and Vbeta11 expression). Cultured splenocytes are responsive to whole myelin oligodendrocyte glycoprotein (MOG) and to MOG 35-55 peptide, but not to ovalbumin (OVA) control peptides. From between 2.5 to 5 months of age, 4% of 2D2 TCR mice develop spontaneous experimental autoimmune encephalomyelitis (EAE), while within the first year 40% of 2D2 TCR mice develop spontaneous, isolated optic neuritis with neither clinical nor histological evidence of EAE. Standard EAE induction protoco ..... For more information please see the full phenotype on the strain data sheet | ||
| 006926 | C57BL/6J-EgfrVel/J | Repository- Live |
| Mice homozygous for this mutation have an embryonic lethal phenotype, failing to develop past embryonic days 13.5. Heterozygous mice are viable, fertile, do not display any behavioral abnormalities and are born with open eyelids and curly vibrissae. Adult heterozygotes often have small eyes and corneal opacity with excessive secretions at the eyelid edges. MEFs (mouse embryonic fibroblasts) exhibit reduced migratory ability, approximately 53% of wildtype controls. Histological analysis of homozygous E12.5 embryos reveals placental defects. This mutant mouse strain may be useful in studies of development and as a visible dominant marker for the Egfr allelic series. | ||
| 002623 | C57BL/6JSmn-Dstncorn1-2J/J | Repository- Live |
| Histological assessment of corneas from mice homozygous for the Dstn corn1-2J mutation reveals focal epithelial thickening and enlarged surface epithelial cells with degenerating nuclei. These mice lack the neovascularization found in mice homozygous for the Dstn corn1 mutation and have a more mild corneal epithelial phenotype. Preliminary assessment indicates that this variation in phenotype results from the distinct mutations in Dstn, not from differences in genetic background. In both mutants the corneal epithelial cells show increased levels and altered organizational patterns of filamentous actin. In the Dstncorn1 mutants this alteration to filamentous actin has been shown to result in accelerated proliferation of basal corneal epithelial cells. (Smith et al., 1996; Wang et al., 2001; Ikeda et al., 2003.) | ||
| 010822 | CByJ(Cg)-dde/GrsrJ | Repository- Live |
| dde homozygotes have disproportionate dwarfing evident at birth by shortened limbs, although the axial skeleton appears normal. The back feet have fused toes. Retinal dysplasia presents as white lines in the retina and electroretinaograms show abnormal rod and cone function. Males are sterile and females are poor breeders and poor mothers, often requiring foster mothers to rear the pups. The lifespan of homozygotes varies with some dying shortly after wean and others surviving to approximately one year of age. Ailments identified in homozygotes include emphysema, stomach polyp, apoptitic cells of the tesis, thyroid cysts, holes in the thoracid chord white matter, and holes in the skeletal muscle fibers in the leg. While it has been proposed that dde may offer a model for Walker-Wardburg syndrome, this has not yet been proven. | ||
| 007048 | DBA/2J-Gpnmb+/SjJ | Repository- Live |
| This coisogenic strain has a functional allele of Gpnmb. Homozygous mice do not develop elevated intraocular pressure or glaucoma, although they exhibit a mild iris stromal atrophy (ISA). This strain provides a genetically matched control for DBA/2J (Stock No. 000671). The inbred strain DBA/2J is homozygous for the glaucoma-related GpnmbR150X and Tyrp1isa mutations. | ||
| 000683 | RIIIS/J | Repository- Live |
| RIIIS/J mice have prolonged bleeding times with normal platelet activity and low levels of factor VIII:C and plasma von Willebrand factor antigen, making it a good animal model for human von Willebrand disease. This bleeding tendency is an incomplete dominant, autosomal trait. RIIIS/J mice also produce a low antibody response to several bacterial polysaccharide antigens and are reported to be resistant to collagen induced arthritis. Despite a B cell immunodeficiency, RIIS/J mice develop severe experimental autoimmune myasthenia gravis (EAMG) (Tuzun et al., 2004). RIII/J have a high incidence of mammary tumors and ovarian tumors. RIIIS/J mice carry Mtv8, and Mtv14, but high incidence of tumors has not been reported in these mice. In fact, some studies indicate a resistance to chemically induced tumors. RIIIS/J mice have been reported to develop far fewer lung tumors than A/J or SWR/J mice subsequent to Urethan treatment. BALB/c x RIII F1 males are also highly resistant to ..... | ||
| 005992 | STOCK Efna2tm1Jgf Efna5tm1Ddmo/J | Repository- Live |
| Mice homozygous for both targeted mutations are viable, fertile, and normal in size. While the donating investigator reports that 10-20% of females homozygous at both loci neglect their litters, no such neglect is reported in the colonies at The Jackson Laboratory (Aug 2009). Double homozygous mice have no endogenous protein expression in inferior colliculus (IC) or superior colliculus (SC), and thus lack the concentration gradient created by the endogenous proteins across the midbrain in wildtype mice. Temporal and nasal retinal axon termination is severely altered: multiple ectopic aborizations in the SC indicate abnormalities in both anteroposterior and dorsoventral topography. Following surgical ablation of portions of the midbrain (including IC and SC), cross-modal innervation by retinal neurons is greater in double homozygous mutants compared to wildtype. Mice heterozygous at both loci are reported to have greater reproductive performance compared to double homozygous mice. Furth ..... For more information please see the full phenotype on the strain data sheet | ||
| 013197 | STOCK Sagtm1Jnc/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These mutant mice are photosensitive and if not maintained under low light conditions will develop progressive retinal degeneration. No gene product (protein) is detected by Northern blot analysis of retinas from homozygous mice maintained in cyclic (12 hour light: 12 hour dark) conditions. Photoreceptor loss in homozygotes maintained in cyclic light conditions begins at approximately 100 days of age, progressing to loss of more than half of the photoreceptors by 1 year of age. After 1 week of constant light exposure, homozygotes lose 30% of photoreceptors; after 3 weeks of constant light exposure, more than 60% of photoreceptors are lost. Homozygotes maintained under cyclic light conditions exhibit disorganized and 25% shorter retinal rod outer segment layer, as well as reduced levels of retinal rhodopsin. Recovery phase respon ..... For more information please see the full phenotype on the strain data sheet | ||
| 001379 | STOCK In(4)56Rk Rd4/J | Repository- Live |
| 000395 | 129S1/Sv-Vsx2or-J/J | Research Strain |
| 001649 | A.BY H2bc H2-T18f/SnJ-Dstncorn1/J | Research Strain |
| Mice homozygous for the recessive Dstncorn1 mutation have abnormally proliferative basal corneal epithelial cells. Focal areas of corneal epithelial hyperplasia are found by one week of age, and neovascularization is found by 14 days of age when the eyes open. This neovascularization, which progresses during the first two months of age, is not found in mice homozygous for the Dstncorn-2J allele (which is a point mutation leading to a change in a single amino acid residue). In both mutants the corneal epithelial cells show increased levels and altered organizational pattern of filamentous actin. The areas of thickened cortical epithelia yield a roughened, opaque corneal surface. At 4 weeks of age in Dstncorn1 homozygotes, expression of keratin 14 and involucrin extend into the suprabasal layer in the areas of hyperplastic corneal epithelia. There is also an increase in the levels of expression of cofilin 1, lumican and kerat ..... | ||
| 005350 | B6.CAST(Cg)-Largevls/Pjn | Research Strain |
| Mice homozygous for the veils (Largevls) allele appear runted with muscle wasting. By five months of age, mild to moderate multifocal areas of cardiomyocyte degeneration are observed in the myocardium of homozygotes. Homozygote mice exhibit extensive ocular abnormalities including: retinal dysplasia, a disorganized ganglion cell layer, thinning of the inner nuclear layer, a progressive diminution of photoreceptor cells with aging, as well as, defects in the inner limiting membrane and outer plexiform layer. (Lee Y, et al., 2005) | ||
| 004643 | B6.Cg-Nr2e3rd7/J | Research Strain |
| Nr2e3 is a retinal transcription factor important in the developmental pathways of photoreceptor cells. In mice homozygous for Nr2e3rd7, evenly distributed white spots cover the retina and have been detected by Fundus examination as early as 16.5 days of age. Whorls and rosettes in the outer nuclear layer can first be detected at 12.5 days of age, before the eyes open. These whorls likely underlie the appearance of the white spots on the retina and the white spots and whorls are both present at one month of age then are reduced in number by 5 months, and disappear by 16 months. Electroretinographs give normal signals until 5 months of age when both rod and cone signals begin to show a progressive reduction. Attenuated retinal vessels and mottled pigment are found by 16 months of age, and the outer nuclear layer is only half normal thickness subsequent to progressive loss of cones and rods. Immunohistochemical assessment revealed that the whorls are filled ..... For more information please see the full phenotype on the strain data sheet | ||
| 002529 | B6;129S7-Vldlrtm1Her/J | Research Strain |
| Mice homozygous for the Vldlrtm1Her targeted mutation are viable and fertile. They are smaller and leaner than normal wildtype siblings. The high level of expression in muscle and adipose tissue suggests a role in VLDL triacylglycerol delivery. Plasma levels of cholesterol, triacylglycerol, and lipoproteins were normal when mice were fed normal, high-carbohydrate or high fat diets. However, homozygous mice do show a modest decrease in body weight, body mass index, and adipose tissue mass as determined by the weights of epididymal fat pads. Many homozygous pups in the colony at the Jackson Lab have patchy fur (hair loss) at weaning but look normal at about 6 weeks of age. In a segregation analysis crossing homozygous females with normal "C57BL6/2J" mice, offspring that were homozygous for this Vldlrtm1Her mutation are associated with subretinal neovascularization and were found to have a neovascularization process similar to a type seen in patients wi ..... For more information please see the full phenotype on the strain data sheet | ||
| 002134 | C57BL/6J-Mitfmi-vit/J | Research Strain |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the vitiligo spontaneous mutation Mitfmi-vit are only mildly affected compared to other Mitf alleles. Homozygous mutant mice have a lighter initial coat color than normal with extensive white spotting. After eight weeks of age, the mice producing increasing numbers of white hairs with each hair cycles resembling human vitiligo. Homozygotes exhibit uneven pigmentation of the retina and slow, progressive photoreceptor cell loss, eventually leading to blindness. | ||
| 000516 | C57BLKS-Rpl24Bst/J | Research Strain |
| Belly spot and tail (Rpl24Bst) is a semidominant, homozygous in utero lethal mutation. Adult heterozygotes are viable and fertile although a reduced birth rate for heterozygotes has been reported. This may reflect incomplete penetrance, or, more likely, prenatal mortality. The Rpl24Bst mutation has variable expressivity and the heterozygous phenotypic traits include shortened and kinked tail, white feet and belly spot, malocclusion, smaller body size, exencephaly, abnormalities of the spine, ocular defects, and polydactyly. Polydactyly is found predominantly in the right rear paw, occasionally in the left front paw and rarely in the left rear or right front paws. Approximately 50-60% of the heterozygotes have a reduction in pupillary light reflex in one or both eyes due to an underlying optic nerve atrophy. Ontological studies showed a delay in the developmental fusion of the optic fissure, a disruption of the retinal layers by embryonic day 1 ..... For more information please see the full phenotype on the strain data sheet | ||
| 001489 | CALB/RkJ | Research Strain |
| 003486 | 129-Cstbtm1Rm/J | Cryopreserved - Ready for recovery |
| The progressive myoclonus epilepsies (PMEs) types are diseases characterized by tonic-clonic seizures, myoclonic seizures and progressive neurological dysfunction, including dementia and ataxia. Mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen in one of these human diseases. Specifically, this mouse is a model of Unverricht-Lundborg disease (EPM1).Strain background has an effect on phenotype. | ||
| 009091 | 129-Skitm1Cco/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation die before or shortly after birth due to developmental defects. More than 80% of homozygotes on the 129 background exhibit exencephaly (severe neural tube closure defects) between embryonic day 15.5 (E15.5) and embryonic day 18.5 (E18.5). None exhibit facial clefting. The Donating Investigator reports that homozygotes display flattened or shorter snouts, iris malformation and polydactyly. The penetrance of the phenotype is highly background dependent. Heterozygotes are viable and fertile with timely cranial neural tube closure and, the Donating Investigator reports, no facial clefting. This mutant strain may be useful in studies of facial cleft formation, 1p36 deletion syndrome, oncogene function, apoptosis, and neural tube and skeletal muscle defects. | ||
| 002323 | 129S4/SvJae-Inhbbtm1Jae/J | Cryopreserved - Ready for recovery |
| Homozygous mice are deficient in activin B (betaB:betaB), activin AB (betaA:betaB) and inhibin B (alpha:betaB). Heterozygotes appear normal. Homozygous mutants complete embryonic development and are viable. They are born, however, with open eyes which leads to the development of eye lesions. Homozygous males breed normally but mutant females exhibit a profoundly impaired reproductive ability, characterized by perinatal lethality of their offspring. Mutant females have an increased gestation time and decreased nursing ability that may be the result of impaired milk let-down. There is an upregulation of beta-A activin which may contribute to the phenotype. | ||
| 000385 | 129S;AKR-bs/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the spontaneous blind sterile mutation (bs) are characterized by bilateral nuclear cataracts, smaller than normal eyes, and glossy coats. Female mutant mice are fertile but males are sterile. Cataracts are visible in 16 day embryos and continue to adulthood. Adult male mice copulate normally but have smaller than normal testes. Defects in spermatogenesis lead to a reduced number of sperm and those that are formed completely lack acrosomes. | ||
| 009092 | A.129P-Skitm1Cco/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation die before or shortly after birth due to developmental defects. Homozygotes on the A/J background exhibit exencephaly (severe neural tube closure defects), with a higher embryonic lethality than homozygotes on the C56BL/6 or 129 backgrounds. None exhibit facial clefting. The Donating Investigator reports that homozygotes display flattened or shorter snouts, iris malformation and polydactyly. The penetrance of the phenotype is highly background dependent. Heterozygotes are viable and fertile with timely cranial neural tube closure, and a low incidence of facial clefting. The Donating Investigator reports some heterozygotes on the A/J background exhibit lateral facial clefting. This mutant strain may be useful in studies of facial cleft formation, 1p36 deletion syndrome, oncogene function, apoptosis, and neural tube and skeletal muscle defects. | ||
| 000957 | AKXD28/TyJ | Cryopreserved - Ready for recovery |
| Similar to DBA/2J, AKXD28 mice develop an age-related glaucoma characterized by intraocular pressure elevation, retinal ganglion loss, and optic nerve excavation. Although both glaucoma related alleles, GpnmbR150X and Tyrp1isa, are present in AKXD28, the phenotype differs from DBA/2J. AKXD28 mice do not develop iris pigment dispersion (IPD) and develop a more severe retinal damage. | ||
| 000277 | ATEB/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the atrichosis spontaneous mutation (at) are characterized by sparsely distributed hair, especially on the trunk. The amount of hair varies, but affected mice can be easily recognized at 8 to 10 days old. Both sexes are sterile and have very small gonads with few germ cells. There is a great deficiency of primary spermatogonia in the testes. A quantitative study of maturation of ovarian oocytes showed that the proportion of resident oocytes recruited into the first wave of growth was much higher than in phenotypically normal heterozygous controls (J.J. Eppig, personal communication). This strain is also segregating for the eye blebs spontaneous mutation (Grip1eb). | ||
| 006446 | B10.Cg-H2h4 Sh3pxd2bnee/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the nose eyes ear mutation are runted, with proportionally smaller skeletons, shortened noses, shortened and domed skulls, reduced areal bone mineral density, diminished visceral and subcutaneous white adipose tissue, but not brown adipose tissue, and abnormal eyes and middle ears. The eyes have an enlarged anterior chamber, cloudy cornea, and severe peripheral anterior synechia of the irideocorneal angle. The middle ear shows inflammation as serous fluid with diffuse neutrophils with thickened epithelium. Elevated ABR thresholds are found in all homozygotes and homozygotes are infertile. | ||
| 000497 | B6 x (B6xAKR-Frem1heb)F1/J | Cryopreserved - Ready for recovery |
| 000822 | B6 x 129S1/SvEi Oca2+ Tyr+-Vsx2or-J/J | Cryopreserved - Ready for recovery |
| 000593 | B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the MitfMi spontaneous mutation are characterized by decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity. | ||
| 008617 | B6(A)-Tg(OPN1LW-DT)1Mame/J | Cryopreserved - Ready for recovery |
| Cone photoreceptors in these mice express a modified (DT176) diptheria toxin A chain (DTA) driven by the human red cone specific opsin promoter. This results in the ablation of the cone cells. These mice show no physical, behavioral, reproductive, or growth abnormalities, and the histologic appearance of their retinae remains unchanged over at least 8 months. This strain may be useful in studies of vision and signal processing within the central nervous system. | ||
| 002016 | B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ | Cryopreserved - Ready for recovery |
| 003916 | B6(Cg)-Col2a1sedc/J | Cryopreserved - Ready for recovery |
| Newborn homozygotes are smaller than normal, have a shortened trunk, and often display head bobbing. Decreased body weight persists into adulthood, and the noses, trunks, tails, skulls, and long bones of adults are shortened relative to those of normal siblings. Abnormal epiphyses, with dysplasia of the vertebrae, femora, and tibias are found. Although light microscopy failed to detect any abnormalities in the inner ear, the head bobbing characteristic accompanying this mutation is usually associated with inner ear defects. Auditory brainstem response threshold analysis of 10-15 week old homozygotes does show hearing impairment. Clefts develop between the inner and outer aspects of the inner nuclear layer of the retina (retinoschisis). | ||
| 003046 | B6(FVB)-MitfMi-Mee/J | Cryopreserved - Ready for recovery |
| On the C57BL/6 background, homozygotes have a white coat color while heterozygotes have a black coat. Clinically, heterozygotes have variable amounts of pigment in the retina with a normal optic cup and retinal vessels. Homozygotes have an iris coloboma, a large optic cup and poor or no retinal vessels. Homozygotes show some pigment in the iris, which does not dilate. | ||
| 005624 | B6(V) Lepob-whe/GrsrJ | Cryopreserved - Ready for recovery |
| White eye homozygotes have partially or completely open eyelids at two days of age. Subsequently, likely as a consequence of infection, homozygotes develop a small white spot and atypical growth of blood vessels on the cornea of each eye, although occassionally only one eye is affected. | ||
| 000552 | B6-Aw-J-EdaTa-6J.Cg-Sxr | Cryopreserved - Ready for recovery |
| 001730 | B6-Aw-J-EdaTa-6J.Cg-Sxrb Hya-/J | Cryopreserved - Ready for recovery |
| 007064 | B6.129-Crxtm1Clc/J | Cryopreserved - Ready for recovery |
| Homozygotes are viable and fertile and do not display any gross physical abnormalities. These mice do not elaborate photoreceptor outer segments and synaptic termini, and they lack cone and rod activities as assayed by electroretinograms. Circadian entrainment activity is attenuated. Protein is not produced as determined by RT-PCR of retinal RNA extracts. This strain may be useful as a model of retinophathy (e.g., Leber's congenital amaurosis (LCA), cone-rod dystrophy-2 (adCRD2), retinitis pigmentosa (RP)), or circadian rhythm modification. | ||
| 004276 | B6.129-Figntm1Frk/Frk | Cryopreserved - Ready for recovery |
| 004158 | B6.129-Maftm1Gsb/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this targeted allele appear weak, fail to feed and die within a few hours of birth from unspecified causes. Embryos exhibit a slightly foreshortened head and abnormal lens development. No Maf gene transcript is detected. Posterior lens cells from homozygotes fail to elongate. These cells display inappropriately high levels of DNA synthesis and express alpha A crystallin and all of the beta crystallin genes at dramatically reduced levels. Heterozygotes are phenotypically normal. The presence of lacZ in the targeted allele makes it possible to observe Maf expression characteristics. | ||
| 009042 | B6.129-Pou6f2tm1Nat/J | Cryopreserved - Ready for recovery |
| Heterozygotes and homozygotes are normal in size, viability, and fertility. This transcription factor is normally expressed in retinal neurons, but no obvious phenotype was detected thus far in these targeted ("knockout") mice. | ||
| 005709 | B6.129-Skitm1Cco/J | Cryopreserved - Ready for recovery |
| This mutant was created on a mixed (129 x C57BL/6J) background. Greater than 80% of mice on this mixed background had severe neural tube closure defects (such as exencephaly) while less than 16% exhibited facial clefting. The penetrance of these phenotypes has segregated with further backcross to C57BL/6J. The congenic mutant described here was backcrossed 12-14 times to wildtype C57BL/6J. Mice homozygous for the targeted mutation die before or shortly after birth due to developmental defects. Null mice are distinguishable from wildtype and heterozygous littermates at embryonic day 8.5 (E8.5) with delayed, but complete, cranial neural tube closure (incomplete at the normal E9.5). Ninety percent of null mice alive at E18.5 exhibit facial clefting. Other highly penetrant phenotypes include flattened snout, depressed nasal bridge, excessive orbital separation, elongated subventricular zones, vestigial polydactyly, and malformations of the olfactory bulb, iris, and ventral septum. Heterozy ..... For more information please see the full phenotype on the strain data sheet | ||
| 008218 | B6.129S1-Car14tm1Sly/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by RT-PCR or Western blot analysis of brain, heart, kidney, liver, and muscle tissue. Homozygotes exhibit reduced flash electroretinograms (rod/cone a-wave, b-wave, and cone b-wave) when compared to wildtype controls. The abnormal retinal light response of homozygotes is stable over time. This mutant mouse strain may be useful in studies of extracellular retinal pH and carbon dioxide regulation, photoreceptor response and retinal function. | ||
| 009379 | B6.129S1-Gpr98tm1Pwh/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical abnormalities. A mutant gene product (protein) is detected by Western blot analysis of embryos. High-intensity sound induces audiogenic seizures that often results in death. Cochlear hair cell stereociliary bundles are do not mature properly, lack ankle links and are disorganized. Hair cells and pillar cells in the basal half of the cochlea degenerate and are lost by 2 months of age. Homozygotes become profoundly deaf by 3 weeks of age. Electroretinographic analysis reveals abnormal light-adapted cone-only responses. Mutant mice exhibit abnormal retinal photoreceptor cells ultrastructure and age-related vision loss. This mutant mouse strain may be useful in studies of Usher syndrome type IIC, cochlear development, deafness and blindness. | ||
| 003462 | B6.129S1-Thrbtm1Df/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Thrbtm1Df targeted mutation are viable and fertile displaying normal growth rates. Homozygous mutant mice exhibit goiter and elevated levels of both thyroid hormone and thyroid stimulating hormone. Defects in liver responses to thyroid hormone and subtle behavioral abnormalities are observed. The mice fail to develop normal hearing, as assessed by impaired auditory-evoked brainstem responses, and are susceptible to audiogenic seizures. This strain provides a recessive model for the human syndrome of generalized thyroid hormone resistance (GTHR). | ||
| 002612 | B6.129S2-Bmp4tm1Blh/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Bmp4tm1Blh targeted mutation mutation die early in embryogenesis. Fifteen to twenty percent of heterozygous mice show developmental defects including polydactyly, craniofacial defects, and cystic kidneys. Heterozygotes have also been reported to show eye abnormalities. | ||
| 002442 | B6.129S4-Inhbbtm1Jae/J | Cryopreserved - Ready for recovery |
| Homozygous mice are deficient in activin B (betaB:betaB), activin AB (betaA:betaB) and inhibin B (alpha:betaB). Heterozygotes appear normal. Homozygous mutants complete embryonic development and are viable. They are born, however, with open eyes which leads to the development of eye lesions. Homozygous males breed normally but mutant females exhibit a profoundly impaired reproductive ability, characterized by perinatal lethality of their offspring. Mutant females have an increased gestation time and decreased nursing ability that may be the result of impaired milk let-down. There is an upregulation of beta-A activin which may contribute to the phenotype. | ||
| 006236 | B6.129S6-Casp6tm1Flv/J | Cryopreserved - Ready for recovery |
| Homozygous mice are viable and fertile with no gross morphological or behavioral abnormalities. These mutant mice may be useful in studies of mitochondrial events of apoptosis (especially when paired with other executioner caspase mutant models) and lens development. | ||
| 008682 | B6.129S7-Atxn7tm1Hzo/J | Cryopreserved - Ready for recovery |
| Heterozygous mice carrying a 266 CAG repeat knock-in from the human ataxin 7 gene exhibit hypoactivity, progressive weight loss, retarded growth after 5 weeks of age, droopy eyelids (ptosis) and receded eyes, visual impairment, ataxia, muscle wasting, curvature of the spine (kyphosis), and tremors which are triggered whenever they initiate movement. At the terminal stage of the disease, animals became extremely hypokinetic and did not drink nor eat, even when their chow was wetted and placed at the bottom of the cage. Some mice developed myoclonic seizures around 12 weeks of age and many of the heterozygotes die around this age. Homozygous mice show a gene dosage effect, with their phenotype being more severe and disease progression more rapid, resulting in death around 7-8 weeks of age. The heterozygous mice develop retinal degeneration and post-tetanic potentiation (PTP) impairment. The knock-in expression pattern matches that of wildtype mice in the cerebellum, retina, hippocampus a ..... For more information please see the full phenotype on the strain data sheet | ||
| 003336 | B6.129S7-Cdkn1ctm1Sje/J | Cryopreserved - Ready for recovery |
| Mice lacking the Cdkn1c gene have altered cell proliferation and differentiation, leading to abdominal muscle defects; cleft palate; endochrondral bone ossification defects with incomplete differentiation of hypertrophic chondrocytes; renal medullary dysplasia; adrenal cortical hyperplasia and cytomegaly; lens cell hyperproliferation and apoptosis. The targeted gene is imprinted. The phenotype differs depending on whether the targeted allele is transmitted from the dam or the sire; maternal inheritance of the null allele is lethal. This is a model for the human Beckwith-Wiedemann syndrome. | ||
| 008116 | B6.129X1(Cg)-Pvrl1tm1Ytk/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by Western blot analysis of brain extracts from homozygotes. The Donating Investigator reports that homozygous mice are smaller than wild-type littermates until they are six months of age. 30% of homozygotes are born with one or both eyes open. Homozygotes exhibit microthalmia, absent vitreous body, abnormal undulating retinal layers, deformed lenses with adhered ciliary epithelia and lack ciliary processes. At E16.5, the eyelids of homozygotes are not fused and the apex-apex junction of the pigmented and non-pigmented cell layers of the ciliary epithelia are separated. The number of puncta adherentia junctions at the synapses between mossy fibers and CA3 pyramidal cell dendrites is decreased. Mossy fiber projection through the hippocampus is abnormal. Homozygotes have abnormally long hippocampal infrapyramidal ..... For more information please see the full phenotype on the strain data sheet | ||
| 000026 | B6.C3-Gli3Xt-J/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the extra toes-J spontaneous mutation (Gli3Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans. | ||
| 008000 | B6.CBy-Dscamdel17/RwbJ | Cryopreserved - Ready for recovery |
| Mice homozygous for this spontaneous mutation become severely uncoordinated by postnatal day 3, developing spontaneous seizures and kyphosis. On a mixed BALB/cBy and C57BL/6 background some homozygotes survive, are fertile and have a normal lifespan. On the C57BL/6 background, homozygotes exhibit a more severe phenotype and die shortly after birth. With the exception of the caudal folium of the cerebellum, the central nervous system appears normal on a gross level, however, the retinal ganglion cell layer and inner plexiform layer exhibit disorganization by postnatal day 4. Retinal amacrine cells display defects in the arborization of processes and spacing of cell bodies. This mutant mouse strain may useful in studies of the retina and the mechanism of neuronal self-avoidance. | ||
| 004275 | B6.Cg-Fignfi/Frk | Cryopreserved - Ready for recovery |
| 006407 | B6.Cg-Gusbmps/BrkJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. These mice have the H2b haplotype typical of inbred C57BL/6 mice. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They may be useful in developing new therapies (enzyme replacement, cell transplantation, gene therapy) broadly applicable to other lysosomal storage diseases. | ||
| 000158 | B6.Cg-MitfMi-wh/MitfMi/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes white mutant mice show slight microphthalmia but normal skeleton. Mice heterozygous for the microphthalmia (MitfMi) mutation have less iris pigment than wildtype and often have white spotting on the belly, head, and tail. Homozygous mutant mice have small eyes and are devoid of pigment in the eyes, inner ear, and skin. Homozygotes are deaf at an early age. There is a decrease of mast cells in the spleen and gut. Most homozygotes die around weaning but some may live for several months. There is a deficiency of secondary bone resorption (osteopetrosis) and the incisors fail to erupt. Immunological defects include decreased macrophage chemotac ..... For more information please see the full phenotype on the strain data sheet | ||
| 000184 | B6.Cg-MitfMi-wh/Mitfmi-rw/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the red-eyed white spontaneous mutation Mitfmi-rw have some pigmentation around the neck and have small red eyes. Compound heterozygotes of white and red-eyed white (MitfMi-wh/Mitfmi-rw) are mostly white with tan spots and red eyes. | ||
| 000157 | B6.Cg-MitfMi-wh/Mitfmi-sp/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes white mutant mice show slight microphthalmic but normal skeleton. Both homozygous and heterozygous mice for the microphthalmia-spotted spontaneous mutation (Mitfmi-sp) are not detectably different form wild-type mice in color but have slightly less tyrosinase activity in the skin. Compound heterozygotes (MitfMi-wh/Mitfmi-sp) are light yellow with dorsal and ventral white spots and pigemented eyes. | ||
| 000057 | B6.Cg-MitfMi-wh/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalitites of both the cochlear and vestibular portions of the inner ear. | ||
| 006576 | B6.FVB-Tg(GNAT2-Dta)98Wwk/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this "Trc-Tox176" transgene (also called "h-GNAT2pro-DTA") are viable and fertile. Expression of diphtheria toxin (DTA) from the transgene is similar to that of endogenous GNAT2, leading to ablation of both rod and cone photoreceptor development in the ventral retina (the abnormality is a result of abnormal cellular development rather than a consequence of retinal degeneration). The dorsal retina has nearly normal development of rods, but the development of cones is limited to about 10%. These transgenic mice exhibit an absence of cone photoreceptors in the retina, as well as the concomitant absence of rod photoreceptors in the ventral retina. The mice may be useful in studies of photoreceptor development, photoreceptor-related retinal diseases, and to profile photoreceptor genes in adult and in developmental stages. | ||
| 007066 | B6.SJL-Tg(Crx-GFP,-ALPP)1Clc/J | Cryopreserved - Ready for recovery |
| Heterozygotes are viable and fertile. Expression of human placental alkaline phosphatase (PLAP) and GFP recapitulates that of the endogenous Crx promoter in the retina at embryonic time points as early as embryonic day 12.5 (E12.5) and in the retina of the adult mouse. This line also shows a more sensitive detection of Crx expression in the optic nerve of the developing retina. PLAP (but not GFP) expression is also found in fresh frozen pineal gland samples collected from adult mice. | ||
| 012823 | B6;129-Fzd4tm1Nat/J | Cryopreserved - Ready for recovery |
| Homozygous Fzd4 (frizzled homolog 4 (Drosophila)) mice have a congenital retinal hypovascularization, a progressive inner ear vascular atrophy, a defect in the blood brain barrier in the cerebellum, and a progressive cerebellar degeneration associated with severe ataxia. Mice also show an absence of a skeletal muscle sheath around the lower esophagus associated with progressive esophageal distension. | ||
| 011078 | B6;129-Fzd4tm2.1Nat/J | Cryopreserved - Ready for recovery |
| This strain combines a conditional knockout and an alkaline phosphatase (AP) reporter of the frizzled 4 (Fzd4; Fz4) gene. LoxP sites flank the 5' and 3' UTR's. Without recombination, homozygotes of this allele are indistinguishable from wild type mice and the AP reporter is not expressed. Following cre-mediated recombination, the coding region is excised, and the downstream AP reporter is expressed under the control of the Fzd4 promoter in a cell/tissue-specific manner. Loss of Fzd4 signaling causes defective vascular growth which leads to chronic but reversible silencing of retinal neurons. Loss of expression in all endothelial cells disrupts the blood brain barrier in the cerebellum. This strain may be useful in studies of vascular growth, remodeling, maintenance and disease. | ||
| 012287 | B6;129-Ndptm2Nat/J | Cryopreserved - Ready for recovery |
| This targeted mutation allele expresses a non-functional truncated protein from the Ndp (Norrie disease (pseudoglioma)(human)) gene. The C terminus lacks 11 amino acids. Mice display retinal hypovascularization. Vascular mural cells of the retina are thinner and at lower density in mutants as compared to wildtype, resulting in incomplete coverage of veins and capillaries. This strain may be useful in studies of a variety of angiogenic ocular diseases, including diabetic retinopathy and retinopathy of prematurity. | ||
| 002537 | B6;129S2-Ccnd1tm1Wbg/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation develop to term but show growth retardation that is most pronounced by three weeks of age. The majority of mutant mice die early in life, often within the first month. Survivors continue to show lower than average weight and increased mortality. Mammary gland epithelial duct development is normal in virgin mutant mice. Mutant females that survive to adulthood are fertile, but mammary glands of pregnant mice show a dramatic impairment in the expansion of alveolar lobes and mice are unable to lactate. Steroid hormone levels are normal, and there is no apparent defect in estrogen receptor number, suggesting that cyclin D1 deficiency has an effect on the target tissue directly. Mutant mice demonstrate a neurological abnormality evidenced by limb retraction when lifted by their tails. The most severely affected animals remain in a clasped, flexed position for a few seconds after they have been returned to their cage. Retinal abnormalities include a ..... For more information please see the full phenotype on the strain data sheet | ||
| 011031 | B6;129S4-Shhtm1.1Rseg/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile and do not exhibit patterning defects found in Shh null mutants. The R34A and K38A mutations are targeted to the conserved Cardin Weintraub motif and reduce SHH high-affinity proteoglycan binding. Homozygous mice exhibit reduced body weight, small eyes, hypoplasia of the cerebellum and olfactory bulb, reduced precursor cell proliferation in the cerebellar granule cell layer, the spinal cord, the subventricular zone and the hippocampal subgranular layer. This mutant mouse strain may be useful in studies of cell proliferation and SHH-signaling. | ||
| 004953 | B6;129S6-Gucy2etm1Gar/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by Western blot analysis of eye tissue. Progressive loss of electroretinograms (ERGs) of cone cells from homozygotes begins at age 3 to 5 weeks. ERGs are completely lost in mice older than 8 weeks of age. Histological analysis of mutants between 4 and 5 weeks of age reveals retinal cone cell atrophy and a reduction in the number of cone cells. Isolated retinal rod cells exhibit reduced a-wave and b-wave ERGs, and impaired photoresponse. This mutant mouse strain may be useful in studies of incomplete achromatopsia, progressive cone-rod dystrophy, retinitis pigmentosa and Leber congenital amaurosis. | ||
| 000350 | B6By.Cg-KitW-v MitfMi-wh T/J | Cryopreserved - Ready for recovery |
| Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. KitW-v homozygotes resemble KitW homozygotes in color, anemia, and germ cells, but many of them survive to maturity. The lack of germ cells in mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a dilut ..... For more information please see the full phenotype on the strain data sheet | ||
| 000836 | B6By.Cg-Sig/J | Cryopreserved - Ready for recovery |
| 001573 | B6C3Fe a/a-MitfMi/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice heterozygous for the MitfMi mutation have less iris pigment than wildtype and often have white spotting on the belly, head, and tail. Homozygous mutant mice have small eyes and are devoid of pigment in the eyes, inner ear, and skin. Homozygotes are deaf at an early age. There is a decrease of mast cells in the spleen and gut. Most homozygotes die around weaning but some may live for several months. There is a deficiency of secondary bone resorption (osteopetrosis) and the incisors fail to erupt. Immunological defects include decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity. | ||
| 000956 | B6CB-Mitfmi-rw/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the red-eyed white spontaneous mutation Mitfmi-rw have some pigmentation around the neck and have small red eyes. | ||
| 000287 | B6CBACa Aw-J/A-Plp1jp EdaTa/J | Cryopreserved - Ready for recovery |
| Hemizygous males carrying the X-linked jimpy spontaneous mutation (Plp1jp) appear normal when sitting quietly, but beginning at about 3 weeks of age they show a marked tremor of the hindquarters when attempting movement. After 3 weeks of age convulsions may occur. These males die between 20 and 40 days of age. In males, the CNS is very deficient in myelin, but the PNS is normally myelinated. Heterozygous jimpy females have normal lifespans with no overt phenotype. However, jimpy heterozygous females are reported to have reduced numbers of oligodendrocytes compared to wildtype females. While the mutation is recessive, only partial phenotypic rescue was attained by the transgenic expression of the two major isoforms, PLP and DM20, suggesting a dominant negative action from this allele (Nandon et al., 1994). This stock is also carrying the X-linked tabby mutation (EdaTa). | ||
| 002026 | BALB/cHeA-Foxe3dyl/J | Cryopreserved - Ready for recovery |
Dysgenetic lens (Foxe3dyl) was originally characterized as an autosomal recessive mouse mutant but Foxe3 haploinsufficiency can also yield a similar phenotype characterized by defective lens development and cataracts. Homozygotes are viable and fertile. The most prominent abnormality is the irregular shape and reduced size of the lens. The pupil is also smaller and exhibits abnormal reactivity. The major morphological hallmark of homozygous Foxe3dyl mice is the persistent attachment of the lens to the corneal epithelium. The iris can also be fused with the lens but the retina remains unaffected. The lens contains fewer secondary fibers but when present, these fibers are very disorganized and the tissue contains large vacuoles. The developing lens initially forms properly as the lens placode is induced within the anterior neural ectoderm but around embryonic day 10 the mutant lens vesicle does not completely close and detach from the ..... | ||
| 002368 | C.129S4(B6)-Inhbbtm1Jae/J | Cryopreserved - Ready for recovery |
| Homozygous mice are deficient in activin B (betaB:betaB), activin AB (betaA:betaB) and inhibin B (alpha:betaB). Heterozygotes appear normal. Homozygous mutants complete embryonic development and are viable. They are born, however, with open eyes which leads to the development of eye lesions. Homozygous males breed normally but mutant females exhibit a profoundly impaired reproductive ability, characterized by perinatal lethality of their offspring. Mutant females have an increased gestation time and decreased nursing ability that may be the result of impaired milk let-down. There is an upregulation of beta-A activin which may contribute to the phenotype. | ||
| 001434 | C3HeB/FeJ x STX/Le-Mc1rE-so Gli3Xt-J Zeb1Tw/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the twirler mutation (Tw) display head-shaking and circling behavior but are not deaf. There are morphological abnormalities of the inner ear which consist of irregularities in the outline of the semicircular canals, sometimes amounting to branching, and reduction or absence of otoliths. Moderate astrocytosis in the vestibular nuclei and cerebellar white matter has been reported. Homozygotes have cleft lip and palate or cleft palate only. They die within 24 hours after birth. Viability and fertility are normal except that adults tend to become obese and may then become sterile. Penetrance is incomplete. This strain is also carrying the sombre (Mc1rE-so) and extra toes-Jackson (Gli3St-J) mutations. Extra toes-J heterozygotes have varying numbers of extra digits on preaxial side of feet. Homozygotes die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E ..... For more information please see the full phenotype on the strain data sheet | ||
| 001533 | C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the extra toes-J spontaneous mutation (Gli3Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans. This strain is homozygous for the sombre mutation (Mc1rE-so). | ||
| 001547 | C3Sn.Cg-Cm/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the coloboma spontaneous mutation (Cm) show abnormal posture, head shaking or bobbing, and circling. Heterozygous mutant mice are extremely hyperactive, locomotor activity being three times that of normal mice. | ||
| 006579 | C57BL/6-Tg(Camk2a-Bdnf)A9Stl/J | Cryopreserved - Ready for recovery |
| Hemizygous mice are viable and fertile, although the donating investigator reports that hemizygous mice have breeding problems likely resulting from a social anxiety-related phenotype. These "BDNF (line A9)" mice express the rat brain-derived neurotrophic factor (BDNF) primarily in forebrain regions, including the neocortex and hippocampus. Weak transgenic BDNF expression is detected also in cerebellum. Within the primary visual cortex, transgene expression is highest in the superficial layers. Hemizygous mice exhibit accelerated maturation of GABAergic innervation and inhibition, earlier termination of the critical period for ocular dominance plasticity, and accelerated development of visual acuity. These transgenic mice may be useful for studies involving BDNF overexpression and synaptic maturation and plasticity in the visual cortex. | ||
| 000338 | C57BL/6J Aw-J-EdaTa-6J/J | Cryopreserved - Ready for recovery |
| 000569 | C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J | Cryopreserved - Ready for recovery |
| Testicular feminization (ArTfm) is a dominant spontaneous mutation on the X chromosome. Hemizygous male mice are outwardly female in appearance except that the vagina does not open until 3 months of age if at all. Male reproductive development is abnormal leading to very small testes, and the absense of vas deferens, the epididymis, and male accessory glands. Spermatogonia and Sertoli cells are present in the testes, but spermatogenesis does not proceed past meiotic prophase. Leydig cells, which normally produce androgen in males, fail to develop normally. This strain is also segregating for the tabby mutation (EdaTa) that affects both the coat color and hair pattern growth. The tabby mutation is maintained in repulsion with the testicular feminization mutation and is used as a coat color marker to assist in identifying resulting genotypes obtained from matings. | ||
| 005095 | C57BL/6J-Clcn2nmf240/J | Cryopreserved - Ready for recovery |
| Homozygotes exhibit grainy retinas by 3 weeks of age which progresses into large white patches distributed across the entire retina by 12 weeks of age. At 10 days of age the apical processes of the retinal pigment epithelium are abnormally elongated, by 14 days of age the retinal outer nuclear layer is reduced in thickness and contains pyknotic nuclei and the photoreceptor outer segments are disorganized and shortened. By 3 weeks of age the photoreceptor layer is reduced to one to two layers of cells and the outer segments are not visible. Both dark and light adapted flash electroretinograms show reduced amplitude responses as early as 14 days of age and this worsens progressively to near zero by 26 days of age. Male infertility is associated with decreased weight of the testes and epididymides and azoospermia as early as 6 weeks of age with severe degradation of spermatogenesis. Progressive leukoencephalopathy is also found, with vacuoles in the white matter tracts and cerebellum ..... For more information please see the full phenotype on the strain data sheet | ||
| 005094 | C57BL/6J-Lama1nmf223/J | Cryopreserved - Ready for recovery |
| Homozygotes have retinal vasculopathy, characterized by vitreal fibroplasias and vessel tortuosity. There is thinning of the peripheral inner nuclear layer and variable cell loss in the retinal ganglion cell layer, along with reduced dark and light adapted electroretinogram amplitudes. There is abnormal migration of retinal astrocytes into the vitreous and the persistence of hyaloid vaculature. While targeted disruption of the alpha 1 laminin gene causes a more severe phenotype, including the absence of the inner limiting membrane, this hypomorph nevertheless displays ectopic cells and blood vessels within the vitreous indicative of reduced integrity of the inner limiting membrane. | ||
| 002611 | C57BL/6J-Mitfmi-bws/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. | ||
| 004851 | C57BL/6J-Nmf128/J | Cryopreserved - Ready for recovery |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Nmf128 entry. | ||
| 005007 | C57BL/6J-Nmf191/J | Cryopreserved - Ready for recovery |
| At 12 weeks of age, the retinas of Nmf191 carriers were found to be grainy, although electroretinographic recordings were normal. View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Nmf191 entry. | ||
| 006948 | C57BL/6J-hstp/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the high stepper mutation display an abnormal gait in which they pull their rear legs up to the body as they walk. They also draw the rear legs to the belly when picked up by the tail. Electroretinogram recordings are abnormal for all homozygotes on a pure C57BL/6J background or on a (C57BL/6J x CAST/EiJ)F2 background. Histology of the eye shows rosettes and misplaced ganglion cells by approximately 2 weeks of age. | ||
| 005006 | C57BL/6J-nmf131/J | Cryopreserved - Ready for recovery |
| Homozygosity for the nm131 mutation can cause retinal dysplasia, retinal degeneration, vitreal fibroplasia, and, less commonly, cataracts or microphthalmia. This mutation has low penetrance. View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf131 entry. | ||
| 001490 | C;AK-Gja8Lop10/J | Cryopreserved - Ready for recovery |
| The lens opacity 10 mutation in Gja8 is semidominant. Homozygotes are microphthalmic with foamy cataract of the entire lens apparent when the eyes open at 12 days of age and increasing in opaqueness with age. Bladder cells are found adjacent to the anterior and posterior subcapsular regions of the lens before birth, the lens nucleus begins to liquefy by 4 days of age and ruptures posteriorly, then the lens capsule thickens. Gja8Lop10 Heterozygotes are not microphthalmic and the phenotype associated with the mutation varies according to the genetic background. A nuclear haze or snowflake nuclear opacity is found in F1 heterozygotes of some backgrounds while a more severe dense nuclear opacity is evident by 4 weeks of age in F1 heterozygotes of other backgrounds including AKR/J and BALB/cJ. Mice homozygous for the Gja8tm1Paul targeted mutation, a recessive mutation in which the entire coding region is removed, do not display posterior lens r ..... For more information please see the full phenotype on the strain data sheet | ||
| 000293 | CHMU/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the congenital hydrocephalus (Foxc1ch) spontaneous mutation die at birth, probably from inability to breathe. Homozygous mutant mice have bulging hemorrhagic cerebral hemispheres and open eyelids, urogenital abnormalities, and severely abnormal skull, cervical vertebrae, sternum, laryngeal cartilages, and hyoid bone. The hydrocephalus may trace to lack of formation of subarachnoid space, which is first detectable in 11-day embryos. Most of the defects in the head region are probably secondary to the severe displacements created by the hydrocephalus. Mice homozygous for the muted spontaneous mutation (Mutedmu), maintained in repulsion with congenital hydrocephalus, have light eyes at birth and their fur is a muted brown shade, often with white underfur. Some have a balance defect, similar to that of pallid (Pldnpa). Homozygous mutant mice show head-tilting and loss of postural reflexes, due to absence of otoliths ..... For more information please see the full phenotype on the strain data sheet | ||
| 002935 | FVB.129S2(B6)-Ccnd1tm1Wbg/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation develop to term but show growth retardation that is most pronounced by three weeks of age. The majority of mutant mice die early in life, often within the first month. Survivors continue to show lower than average weight and increased mortality. Mammary gland epithelial duct development is normal in virgin mutant mice. Mutant females that survive to adulthood are fertile, but mammary glands of pregnant mice show a dramatic impairment in the expansion of alveolar lobes and mice are unable to lactate. Steroid hormone levels are normal, and there is no apparent defect in estrogen receptor number, suggesting that cyclin D1 deficiency has an effect on the target tissue directly. Mutant mice demonstrate a neurological abnormality evidenced by limb retraction when lifted by their tails. The most severely affected animals remain in a clasped, flexed position for a few seconds after they have been returned to their cage. Retinal abnormalities include a ..... For more information please see the full phenotype on the strain data sheet | ||
| 000265 | MY/HuLeJ | Cryopreserved - Ready for recovery |
| 002130 | STOCK Agpsbs2/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the blind-sterile 2 mutation display nuclear cataracts, microphthalmia, smaller than normal lens with improper differentiation of lens epithelial cells to fiber cells with vacuolation, morganian globules, bladder cells and detachment of the apical-apical junctions of epithelial and fiber cells, although the lens epithelial cells appear normal at the anterior of the lens. Males have abnormally small testes with disrupted seminiferous tubules lacking mature spermatozoa or elongating spermatids. Although male homozygotes are sterile, female homozygotes are not. | ||
| 001743 | STOCK Gtg1dwg/J | Cryopreserved - Ready for recovery |
| Mice homozgyous for the dwarf grey spontaneous mutation (Gtg1dwg) are viable but do not breed. Homozygous mutant mice have grey coats, are smaller than littermates, and develop cataracts by 3-4 weeks of age. Additional characteristics include increased numbers of osteoclasts, reduced bone mass, reduced red pulp area of the spleen, and slightly reduced thyroxin levels. | ||
| 008581 | STOCK Largemyd-3J/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the myodystrophy 3 Jackson mutation generally begin to display evidence of muscle degeneration at two to three months of age, although some exhibit symptoms as early as wean age. Inability to splay the hind legs outward when held up by the tail is an initial phenotype and this progresses with age to include swaying gait then dragging of the hind legs. Homozyogtes also display retinoschisis and males are sterile. | ||
| 002352 | STOCK MipCat-Fr/J | Cryopreserved - Ready for recovery |
| 001253 | STOCK MitfMi-wh +/+ Wnt7apx/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. MIce homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalitites of both the cochlear and vestibular portions of the inner ear. Mice homozygous for the postaxial hemimelia spontaneous mutation (Wnt7apx) have skeletal defects of the forelimbs. Digits 5, 4, and sometimes 3, are missing and there is a reduction or absence of the ulna. There is always a large oval foramen in the scapula. The hindlimbs are usually unaffected, but digit 5 may be absent, and occasionally the fibula is r ..... For more information please see the full phenotype on the strain data sheet | ||
| 002139 | STOCK Nr2e3rd7/J | Cryopreserved - Ready for recovery |
| Nr2e3 is a retinal transcription factor important in the developmental pathways of photoreceptor cells. In mice homozygous for Nr2e3rd7, evenly distributed white spots cover the retina and have been detected by Fundus examination as early as 16.5 days of age. Whorls and rosettes in the outer nuclear layer can first be detected at 12.5 days of age, before the eyes open. These whorls likely underlie the appearance of the white spots on the retina and the white spots and whorls are both present at one month of age then are reduced in number by 5 months, and disappear by 16 months. Electroretinographs give normal signals until 5 months of age when both rod and cone signals begin to show a progressive reduction. Attenuated retinal vessels and mottled pigment are found by 16 months of age, and the outer nuclear layer is only half normal thickness subsequent to progressive loss of cones and rods. Immunohistochemical assessment revealed that the whorls are filled ..... For more information please see the full phenotype on the strain data sheet | ||
| 004510 | STOCK Rom1tm1Mci/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable and normal in size. When heterozygous mice are bred together, homozygous animals occur at a greatly reduced frequency (~6%). No gene product (protein) is detected in retinal tissue from homozygotes by Western blot analysis. Onset of progressive retinal degeneration occurs at 2 months of age beginning with a thinning of the outer nuclear layer of retinal cells. Rod outer segments in 2 month old mice display disorganized arrangement, irregular gaps and amorphous aggregates. At 4 months of age organization of rod outer segments improves. TUNEL assay of mutant retinal tissue show photoreceptor degeneration is due to apoptotic cell death. Ultra structural organization of rod outer segment disks is disorganized, often with patches of enlarged disks. Electroretinogram a-wave analysis of photoreceptor function reveals a diminished maximal photoreceptor response (50% lower than wildtype). This mutant mouse strain may be useful in stu ..... For more information please see the full phenotype on the strain data sheet | ||
| 003318 | STOCK Shhtm1Amc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Shhtm1Amc targeted mutation display early defects in the establishment and maintenance of midline structures. These defects result from the critical role the Sonic hedgehog (Shh) gene plays in the patterning patterning of vertebrate embryonic tissues, including the brain and spinal cord, the axial skeleton and the limbs. Defects are also observed in all tissues, confirming the proposed role of SHH proteins as an extracellular signal required for the tissue-organizing properties of several vertebrate patterning centers.
When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004293) and a strain expressing Cre recombinase in the skin and dental epithelium (Stock No. 004782), this mutant mouse strain may be useful in studies of hedgehog signalling and cell proliferation in the dental e ..... | ||
| 001385 | STOCK Srebf2lop13/J | Cryopreserved - Ready for recovery |
| Lens opacity 13 is a recessive mutation that causes bilateral cataracts that do not affect the cortex of the lens. This presents at 3 to 4 weeks of age as a white area in the center of the lens. The size of the eyes is normal. (Varnum, 1981.) | ||
| 000302 | STOCK a/a MitfMi-wh +/+ Itpr1opt/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalities of both the cochlear and vestibular portions of the inner ear. Mice homozygous for the opisthotonus spontaneous mutation (Itpr1opt) display a characteristic upward arching of head and tail. Homozygous mutant mice can be recognized at about 10 days of age by their loss of balance when standing or moving. Typical behavior of 15 to 20 day old homozygotes consists of falling over and struggling to get up. Agitation and s ..... For more information please see the full phenotype on the strain data sheet | ||
| 001985 | STOCK eyl2/J | Cryopreserved - Ready for recovery |
| 80% of mice homozygous for the eyeless 2 Jackson mutation were reported to have anophthalmia, and those with intact globes have microphthalmia and are often found to have congenital corneal perforations and collapse of the anterior chamber (Chang et al., 2005). | ||
| 000312 | STOCK stb + a/+ Fignfi a/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the fidget spontaneous mutation (Fignfi) toss their heads from side to side and tend to run in circles. Homozygous fidgit mice are hypersensitive to sound in early life, but later lose hearing ability. Corneal lesions are common, and hind foot polydactylism occurs. The bony labyrinth is quite defective. Other abnormalities including small eyes, absence of lachrymal glands, dislocation of the hip, and displaced parafloccular lobes of the cerebellum. Viability of homozygotes is usually less than normal and fertility is poor. The STOCK is also carrying the stubby spontaneous mutation (stb). Homozygous stubby mice are recognizable at 4 or 5 days by a domed head and thick short tail. Adult stubby mice have shorter heads, bodies, and legs compared to wildtype mice. Most females are fertile but males do not breed. Male mice do produce normal numbers of motile sperm. Cartilage histology is within normal limits, but chondrogenesis stops earlier than ..... For more information please see the full phenotype on the strain data sheet | ||
| 000583 | STOCK T(X;16)16H +/+ EdaTa | Cryopreserved - Ready for recovery |
| 005005 | ZRDCT Rax+/ChUmdJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the Rax+ (Stock No. 005005) mutation are normal eyed. This control strain was developed in parallel with ZRDCT Raxey1 (Stock No. 005004). | ||
| 005004 | ZRDCT Raxey1/ChUmdJ | Cryopreserved - Ready for recovery |
| Ninety percent of mice homozygous for Raxey1 are anophthalmic and 10% are microphthalmic. Anophthalmic mice have orbits and eyelids but lack eyes and optic tracts (Chase et al. 1941). Microphthalmic mice have one or two small eyes, and may have an optic nerve (Chase et al. 1941). The phenotype is first distinguished at approximately embryonic day ten. Optic vesicles develop, however, they are reduced in size and contact poorly with surface ectoderm (Chase et al. 1941). A normal eyed control strain, ZRDCT Rax+/ChUmdJ (Stock No. 005005) was developed in parallel with ZRDCT Raxey1. Raxey1 mice exhibit an abnormal hypothalmus (Silver 1977) and altered circadian rhythm (Laemle et al. 1998). This strain serves as a model for human anophthalmia. | ||
| 017533 | B6N.129(Cg)-Sema5atm1.2Alk/J | Under Development - Now Accepting Orders |
| In this knockout strain, exon 6 of the semaphorin 5A (Sema5a) gene is excised (includes coding region), abolishing gene function. Sema5A is a transmembrane protein which acts as a repellant for axonal guidance during retinal neural development. Wildtype P0 and P3 mice express Sema5A in the outer neuroblastic layer, directly adjacent to the inner neuroblastic layer (INBL). At P7, P10, and P14, the expression is only observed in the middle to outer part of inner nuclear layer (INL), and transcripts are not detectable at P21, when retinal development is almost complete. Homozygotes are viable and fertile. When bred to mice lacking Sema5b (Stock No. 017534), SEMA5A/B double KO mice exhibit severe defects in retinal ganglion cells, amacrine cells, cholinergic amacrine cells, calretinin-positive amacrine cells, and calbindin-positive amacrine cells. The defects lead to neurite mistargeting within both the inner plexiform ..... For more information please see the full phenotype on the strain data sheet | ||
| 017445 | STOCK Epha7tm1Ud/J | Under Development - Now Accepting Orders |
| In this strain, exon 1 of the Eph receptor A7 (Epha7) gene is deleted, abolishing gene expression. Homozygotes are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. EPHA7 is a member of the Eph family of receptor tyrosine kinases and acts as a repellent during axonal growth, suppressing branching. EPHA7 is expressed as a gradient (anterior > posterior) in the superior colliculus (SC). Homozygous Epha7-/- mice exhibit some wiring defects in brain, where topographic mapping of both temporal and nasal axons is disturbed. These mice may be useful for studying the development of retinocollicular projection. | ||
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