Strain Name: |
I/LnJ |
|---|---|
Stock Number: |
000674 |
Availability: | Repository- Live |
General Terms and Conditions |
| Strain Common Names | I Lyon; |
| Genes & Alleles | Ednrb; Ednrbs; Hc; Hc0; Myo5a; Myo5ad; |
Product Information
Strain Details
Type Inbred Strain Additional information on Inbred Strains. Mating System Sibling x Sibling (Female x Male) Species laboratory mouse H2 Haplotype j Generation F144 (22-NOV-06) Appearance
pink-eyed dilute brown, piebald (spotted)
Related Genotype: a/a Tyrp1b/Tyrp1b Oca2p/Oca2p Myo5ad/Myo5ad Ednrbs/EdnrbsStrain Description
I/LnJ mice were originally derived by Dr. LC Strong in 1926 from an unpedigreed stock of mice. A high proportion of mice from this strain lack a corpus callosum. This absence is associated with slow growth of the medial septum subadjacent to the cavum septi. The reproductive performance of I/LnJ mice is very poor. Further analysis indicates that oocytes from I/LnJ mice display retarded kinetics of meiotic maturation and a high frequency of metaphase I arrest. Some oocytes fail to resume meiosis. Oocytes have many very small centrosomes with an absence of microtubules. I/LnJ mice, in addition to carrying several other coat color alleles, are homozygous for the piebald mutation (Ednrbs). The piebald spontaneous mutation is the result of a mutation in the endothelin receptor type B gene, Ednrb. Mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. The white areas of the coat are completely lacking in neural crest-derived melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye.
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Ednrbs | ||
|---|---|---|---|
| Allele Name | piebald | ||
| Common Name(s) | s; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Ednrb, endothelin receptor type B | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ABCDS; AU022549; ETB; ETBR; ETRB; Ednra; HSCR; HSCR2; Sox10m1; expressed sequence AU022549; piebald; s; | ||
| General Note | Also called piebald spotting. This is a very old mutation of the mouse fancy, and was described in the scientific literature as early as 1920 (J23183). Some piebalds in existing stocks may be of independent origin. Homozygotes show irregular white spotting, the amount of which is greatly influenced by minor modifying genes (J:12952). Homozygotes have dark eyes. The white areas of the coat are completely lacking in melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye (J:15014, J:12970). There may also be defects in the structure of the iris, suggesting that pigment cells make some structural or inductive contribution to normal development (J:13123).Homozygotes may develop megacolon which is always associatedwith lack of ganglion cells in the distal portion of the colon. The incidence of megacolon is also affected by minor modifying genes (J:15014). Pigment cells and enteric ganglion cells of the colon are both derived from the neural crest, and Mayer (J:12725) has shown by explantation of embryonic tissues that the defect leading to white spotting is in the neural crest rather than in the skin. The defect probably consists of failure of pigment cells to differentiate in certain tissue environments rather than in failure to migrate (J:5036). The distribution of white areas in the skin and other organs is probably due to normal regional differences in these tissues in capacity to support pigmentation and not to regional heterogeneity among the pigment cells themselves (J:5220, J:5036, J:5060, J:5782).The piebald mutation was shown to be linked closely with Hr (J:299), later mapped to Chr 14 (J:52911). The localization has been refined in studies of induced mutations, using an intersubspecific backcross (J:16291). | ||
| Molecular Note | This mutation is allelic to a targeted mutation for this gene. Homozygous mice produce approximately 25% of the normal levels of transcript from this allele. RT-PCR analysis demonstrated that no alterations in the coding sequence would result in any alteration of the amino acid sequence. A 5.5 kb retrotransposon-like element is found in intron 1. About 75% of the mRNA produced is an aberrant 6.5 kb form lacking exons 2-6 but containing exon 1. The remaining 25% of the mRNA formed is of normal, 4.4 kb, size. [MGI Ref ID J:110573] [MGI Ref ID J:22206] [MGI Ref ID J:56133] | ||
| Allele Symbol | Hc0 | ||
| Allele Name | deficient | ||
| Common Name(s) | C5-; C5-d; C5-def; C5-deficient; hco; | ||
| Gene Symbol and Name | Hc, hemolytic complement | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | C5; C5a; CPAMD4; FLJ17816; FLJ17822; He; MGC142298; RGD1561905; | ||
| General Note |
This is an allele characteristic of various inbred mouse strains including the following: A/HeJ, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ Hc was identified as a candidate gene for Abhr2 in a microarray analysis of lung mRNA from A/J, C3H/HeJ, and (A/J x C3H/HeJ)F1 x A/J backcross animals. Hc genotype shows statistically significant correlation to allergen-induced bronchial hyperresponsive phenotype. The A/J allele contains a 2 bp deletion resulting in deficient Hc mRNA and protein production and is associated with susceptibility to allergen-induced bronchial hyperresponsiveness. (J:108211) | ||
| Molecular Note | A 2 base "TA" deletion at positions 62 and 63 of an 83 base pair exon near the 5' end of the gene is found in the following mouse strains: A/HeJ, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ. The consequence of this deletion is the creation of a stop codon starting four bases after the deletion. A truncated product of 216 amino acids is predicted as a result although contradictory reports exist that a larger pro-C5 protein may be synthesized. Nevertheless, macrophages from mouse strains carrying this allele do not secrete complement 5. [MGI Ref ID J:23983] | ||
| Allele Symbol | Myo5ad | ||
| Allele Name | dilute | ||
| Common Name(s) | d; dv; maltese dilution; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Myo5a, myosin Va | ||
| Chromosome | 9 | ||
| Gene Common Name(s) | 9630007J19Rik; AI413174; AI661011; D; Dbv; Dop; GS1; MVa; MYH12; MYO5; MYR12; Myo5; MyoVA; RIKEN cDNA 9630007J19 gene; d; dilute; expressed sequence AI413174; expressed sequence AI661011; flail; flailer; flr; myosin V; nmf244; | ||
| General Note |
Mutations at the Myo5a locus lighten coat color through an abnormal morphology of melanocytes that causes uneven pigmentation of the hair shaft (J:11005). Most of these mutations also cause severe neurological defects; in some mutant forms, these defectslead to early death (J:12978), while in others life span is normal, but convulsions and loss of equilibrium occur after about four months of age (J:16915). Maltese dilution, as this mutation was originally called, is an old mutation of the mouse fancy. The blue-gray color of the hair produced by this mutation in nonagouti (a/a) mice is caused by clumping of the melanin pigment into a few large masses (J:12958). The melanocytes are misshapen, with fewer and thinner dendritic processes than wild-type melanocytes, and melanin granules are largely clumped around the nucleus (J:12970). Incorporation of tyrosine into melanin proceeds at a normal rate (J:12173), and the fine structure of the melanin granules is normal (J:5346). Cultured primary melanocytesfrom dilute homozygotes are normal in morphology but display clustering of melanosomes (J:37976). Griscelli disease (Chediak-Higashi-like syndrome, OMIM 214450) is a human autosomal recessive disorder whose symptoms include pigment dilution, immunodeficiency, and acute lethal lymphocyte and macrophage activation. Melanocyte malformation is characteristic of the pigment abnormality. The immunological abnormality includes absence of cutaneous hypersensitivity and impaired function of natural-killer cells. Griscelli disease resembles the dilute-lethal mouse mutant, except for the neurological disorder in the mouse. The locus for Griscelli disease colocalizes with the locus for myosin Va, which is mutated in at least some Griscelli patients. Griscelli disease is thus the homolog of mouse Maltese dilution (J:41253). The original Myo5ad mutation which identified the locuswas caused by insertion of an ecotropic murine leukemia virus (see Emv3) (J:6844, J:6587). All other mutations examined lack the virus. Reversions of Myo5ad to wild-type, which have been reported frequently, are caused by excision of the virusleaving exactly one long terminal repeat in place (J:7092). The virus is integrated into a noncoding region of the DNA (J:7751). | ||
Colony Maintenance
| Diet Information | LabDiet® 5K52/5K67 |
|---|
Related Strains
Strains carrying Ednrbs allele
000577 B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J 000676 LP/J 000308 SSL/LeJ 000275 V/LeJ View Strains carrying Ednrbs (4 strains)
000645 A/HeJ 000646 A/J 000647 A/WySnJ 000648 AKR/J 000460 B10.D2-Hc0 H2d H2-T18c/o2SnJ 000461 B10.D2-Hc0 H2d H2-T18c/oSnJ 000657 CE/J 000671 DBA/2J 007048 DBA/2J-Gpnmb+/SjJ 001800 FVB/NJ 001491 FVB/NMob 001303 NOD.CB17-Prkdcscid/J 001976 NOD/ShiLtJ 000684 NZB/BlNJ 000682 RF/J 000688 ST/bJ 000689 SWR/J
001005 AKXD1/TyJ 001003 AKXD11/TyJ 000765 AKXD13/TyJ 000779 AKXD14/TyJ 000954 AKXD15/TyJ 001093 AKXD18/TyJ 000776 AKXD2/TyJ 001062 AKXD21/TyJ 000947 AKXD22/TyJ 000949 AKXD25/TyJ 000764 AKXD27/TyJ 000959 AKXD3/TyJ 000285 B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J 000652 BDP/J 000036 BXD1/TyJ 000013 BXD16/TyJ 000015 BXD18/TyJ 000010 BXD19/TyJ 000077 BXD21/TyJ 000043 BXD22/TyJ 000081 BXD25/TyJ 006255 BXD25/TyJRwwJ 000029 BXD29/TyJ 000037 BXD5/TyJ 000007 BXD6/TyJ 000084 BXD8/TyJ 000105 BXD9/TyJ 000284 CWD/LeJ 000670 DBA/1J 000671 DBA/2J 000963 DBA/2J-Myo5ad+17J/Myo5ad/J 000964 DBA/2J-Myo5ad+18J/Myo5ad/J 000067 DBA/2J-Myo5ad+2J/Myo5ad/J 000673 HRS/J 001850 MEV-Q/TyJ 001855 MEV-V/TyJ 003345 MEV/2Ty-Emv64/J 000679 P/J 000644 SEA/GnJ 000390 STOCK Myo5ad Ds/J 000994 STOCK a Myo5ad Mregdsu/J 000286 STOCK a/a Myo5ad fd/+ +/J
003295 B6;129-Ednrbtm1Ywa/J 000308 SSL/LeJ 004711 STOCK Ednrbs-52Pub
000470 AK.M-H2m H2-T18a/nSnJ 005308 B10.Cg-H2d Tg(TcraCl4,TcrbCl4)1Shrm/ShrmJ 000463 B10.D2-Hc1 H2d H2-T18c/nSnJ 003147 B10.D2-Hc1 H2d H2-T18c/nSnJ-Tg(DO11.10)10Dlo/J 004306 NOD.CBALs-Hc1/LtJ
005012 A.B6 Tyr+-Myo5ad-l31J/J 001013 B10.D2/nSnJ-Myo5ad-n/J 000502 B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J 000963 DBA/2J-Myo5ad+17J/Myo5ad/J 000964 DBA/2J-Myo5ad+18J/Myo5ad/J 000067 DBA/2J-Myo5ad+2J/Myo5ad/J 000253 DLS/LeJ
Phenotypic Data
Mouse Phenome Database
Festing Inbred Strain Characteristics: I
Additional Web Information
Genetic Quality Control Annual Report
JAX® NOTES, April 1988; 433. H-2 Haplotypes of Mice from Jackson Laboratory Production Colonies.
Animal Health Reports
Room Number FGB29
Research Applications
This mouse can be used to support research in many areas including:
Ednrbs relatedNeurobiology Research
Angelman syndrome
Neurodevelopmental Defects (acallosal)
Vestibular and Hearing Defects (Age related hearing loss, control)
Reproductive Biology Research
Developmental Defects Affecting Gonads
Fertility Defects
Sensorineural Research
Vestibular and Hearing Defects (Age related hearing loss, control)
Hc0 relatedDermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects
Mouse/Human Gene Homologs
Hirschsprung disease
Neurobiology Research
Neurodevelopmental Defects
Receptor Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Myo5ad relatedImmunology and Inflammation Research
Immunodeficiency (specific complement deficiency)
Research Tools
Immunology and Inflammation Research (specific complement deficiency) (C5 complement)
Dermatology Research
Color and White Spotting Defects
Mouse/Human Gene Homologs
Griscelli Syndrome
References
Selected Reference(s)
Additional ReferencesAlbertini DF; Eppig JJ. 1995. Unusual cytoskeletal and chromatin configurations in mouse oocytes that are atypical in meiotic progression. Dev Genet 16(1):13-9. [PubMed: 7758242] [MGI Ref ID J:109918]
Hosoda K; Hammer RE; Richardson JA; Baynash AG; Cheung JC; Giaid A; Yanagisawa M. 1994. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79(7):1267-76. [PubMed: 8001159] [MGI Ref ID J:22206]
Wahlsten D; Bulman-Fleming B. 1994. Retarded growth of the medial septum: a major gene effect in acallosal mice. Brain Res Dev Brain Res 77(2):203-14. [PubMed: 8174229] [MGI Ref ID J:16942]
Wahlsten D; Ozaki HS; Livy D. 1992. Deficient corpus callosum in hybrids between ddN and three other abnormal mouse strains. Neurosci Lett 136(1):99-101. [PubMed: 1635672] [MGI Ref ID J:2581]
Wahlsten D; Schalomon PM. 1994. A new hybrid mouse model for agenesis of the corpus callosum. Behav Brain Res 64(1-2):111-7. [PubMed: 7840877] [MGI Ref ID J:21337]
Price and Supply Information
| Strain Name: | I/LnJ |
| Stock Number: | 000674 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.
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Supply Details
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement. |
|---|---|
| Supply Notes |
Usually shipped between four and six weeks of age. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource. |
| Licensing | See General Terms and Conditions below |
General Terms and Conditions
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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