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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Former Names STOCK gr +/+ Ap3dmh/J (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F70 Appearance
agouti grey
Related Genotype: A/A gr +/gr ?
mocha coat color
Related Genotype: A/A Ap3d1mh +/Ap3d1mh ?
agouti
Related Genotype: A/A ? +/+ ? or A/A gr +/+ Ap3d1mhImportant Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.Description
Mice homozygous for the mocha spontaneous mutation (Ap3d1mh) have increased perinatal mortality. They are recognizable at birth by the absence of visible pigment in the eyes, which darken to deep red in adults. The hairs have considerably smaller and fewer melanin granules than normal. Behavior is abnormal, characterized by hyperactivity, tilted heads, and in some the inability to swim. All homozygotes show degenerative changes in the organ of Corti, stria vascularis, and spiral ganglion, and most show abnormalities of the otoliths in the saccule and utricle. This degeneration can be lessened by the administration of supplemental manganese or, to a lesser degree, zinc to the dam during pregnancy. Evoked auditory brainstem responses appear normal in young homozygotes, but decrease with age coincident with the cochlear degeneration with no response detected after six months of age. At three months of age, mice homozygous for the Ap3d1mh allele have significantly increased auditory evoked potentials after the first of two paired tones. Ap3d1mh-2J homozygotes also show an increased response to thefirst tone but this has not been proven with statistical significance. Homozygotes also show prolonged bleeding times due to a platelet storage pool deficiency (SPD) associated with reduced granulation of the platelets. Consistent with this defective vesicle transport, homozygotes also have decreased levels of renal lysosomal enzymes in the urine. Mocha is thus a mouse mutation that, like pa (pallid) and mu (muted), offers a model for human Hermansky-Pudlak syndrome, combining pigment and otolith abnormalities with platelet SPD. Electrocorticograms from awake Ap3d1mh homozygotes show a constant, high voltage, bilaterally synchronous theta wave pattern that is diminished by chloral-hydrate anesthetization. Heterozygotes also have occasional brief bursts of lower voltage theta waves. Ap3d1mh-2J homozygotes do not display hypersynchronized electrocorticograms but have spike-wave and tonic clonic seizures. Ap3d1mh homozygotes may be fertile but are poor breeders. (Lane and Deol, 1974; Rolfson and Erway, 1984; Noebels and Sidman, 1989; Miller et al., 1999; Peden et al., 2002; Kantheti et al., 1998 and 2003.)This strain is also segregating for the grizzled (gr) spontaneous mutation. gr is a recessive mutation that occasionally causes tail kinks and consistently causes dilution of the yellow pigment but not the black pigment of the hair. The coat color has been described as similar to chinchilla (Tyrc-ch/Tyrc-ch) but with the black pigment remaining undiluted. On the agouti JIGR/Dn background the gr/gr coat color is grayish agouti. On a non-agouti background the hair in the ears and around the genitalia is white. The gr mutation causes 40-50% mortality prior to phenotypic classification and this affects males more than females. This mortality is both postnatal and prenatal from approximately 10 days onward. Pregnant dams expected to carry some homozygotes have been found to carry some dead embryos some of which had craneofacial abnormalities including shortened snout and swollen optic and occipital regions. At birth homozygotes weigh an average of one quarter less than their wildtype siblings. Although they increase in weight as suckling pups, as adults they still weigh 5-25% less than their wildtype siblings. (Falconer, 1950; Bloom and Falconer, 1966.)
This strain is homozygous for the rd1 allele of Pde6b resulting in early onset retinal degeneration in all pups. (Lane and Deol, 1974; Qiao et al., 2003.)
Development
The Ap3d1mh mutation arose spontaneously on the B6.C3-pi/+ background (then at N8) at The Jackson Laboratory in 1963 and was subsequently crossed to a variety of linkage testing stocks (including one carrying Ra, Os, and Pt, one carrying Kcnj6wv, one carrying Re, McolnVa, and Sd, and one carrying Gli3Xt-J, Lystbg-J, and Edaraddcr) before then being crossed to JIGR/Dn (then at F13) which carries ji and gr maintained in repulsion. ji was bred out and the resulting balanced stock with Ap3d1mh in repulsion with gr was then inbred via sibling mating. It reached F5 in 1972, F14 in 1975, F26 in 1978, F35 in 1980, F41 in 1982, F49 in 1984, and in 1989 doubly heterozygous (gr +/+ Ap3d1mh) females and males at F69 or F70 were sibling mated to generate embryos for freezing.
Control Information
| Control | ||
|---|---|---|
| ? +/+ ? untested from colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
000572 JIGR/DnJ
004297 B6.CXB1-Pde6brd10/J 005252 B6EiC3Sn.BLiA-Ts(1716)65Dn/DnJ 003647 B6EiC3Sn.BLiAF1 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Phenotype
Phenotype Information
Hermansky-Pudlak Syndrome; HPS - Models with phenotypic similarity to human disease where etiologies are distinct.2 Storage Pool Platelet Disease - Models with phenotypic similarity to human disease where etiologies are distinct.2
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
assigned by genotype
Ap3d1mh gr+/Ap3d1+ gr
STOCK gr +/+ Ap3d1mh/J
- nervous system phenotype
- abnormal brain wave pattern (MGI Ref ID J:96307)
- electrocorticograms of mocha heterozygotes show occasional brief bursts of lower voltage theta waves, which are a less pronounced abnormality than in homozygotes
Ap3d1mh/Ap3d1mh
STOCK gr +/+ Ap3d1mh/J
- nervous system phenotype
- abnormal nervous system physiology (MGI Ref ID J:94942)
- synaptic zinc levels are reduced throughout the brain
- abnormal brain wave pattern (MGI Ref ID J:96307)
- electrocorticograms from most awake homozygotes show a constant, high voltage (300-600 microvolts), bilaterally synchronous theta wave pattern that is diminished by chloral-hydrate anesthetization
- in some homozygotes there is unilateral hemispheric predominance of the altered theta frequency
- sleep onset causes generalized slowing of cortical activity with sharp waves similar to normal controls
- abnormal spike wave discharge (MGI Ref ID J:59842)
- spike discharge episodes of .25-1 mV amplitude and approximately 0.5-2 seconds duration observed for 4 of 5 mocha homozygotes, more frequent than in mocha 2 Jackson homozygotes
- enhanced sensorimotor gating (MGI Ref ID J:59842)
- hearing/vestibular/ear phenotype
- abnormal brainstem auditory evoked potential (MGI Ref ID J:59842)
- the S1 response, but not the S2 response, is markedly greater than in controls and the auditory gating is significantly enhanced as a result
- abnormal vestibule morphology (MGI Ref ID J:7485)
- greatly reduced pigmentation within the vestibular portions of the inner ear, and this is not corrected by supplementing the mother's diet with manganese-zinc
- absent otoliths (MGI Ref ID J:7485)
- on a normal diet most mocha homozygotes lack otoconia in both the utricle and saccule of one or both ears, but this developmental defect can be greatly prevented in pups by supplementing the mother's diet with manganese-zinc
- absent linear vestibular evoked potential (MGI Ref ID J:116914)
- VESPs are absent at the maximum stimulus intensity used
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:7485)
- the percent homozygotes surviving to weaning is between 16% and 23% of Mendelian prediction, with some variation over time
- the percent of newborn homozygotes is between 47% and 97% of Mendelian prediction, with many dying within the first two or three days after birth
- behavior/neurological phenotype
- abnormal spike wave discharge (MGI Ref ID J:59842)
- spike discharge episodes of .25-1 mV amplitude and approximately 0.5-2 seconds duration observed for 4 of 5 mocha homozygotes, more frequent than in mocha 2 Jackson homozygotes
- homeostasis/metabolism phenotype
- decreased platelet aggregation (MGI Ref ID J:29151)
- decreased aggregation both in the presence of high or low concentrations of collagen
- decreased platelet serotonin level (MGI Ref ID J:29151)
- platelet serotonin levels are less than 6% those of normal
- increased bleeding time (MGI Ref ID J:29151)
- bleed time is greater than 15 minutes
- hematopoietic system phenotype
- *normal* hematopoietic system phenotype (MGI Ref ID J:71349)
- the invariant chain appears to mature and be degraded with normal kinetics, and to have a normal half-life in LPS stimulated antigen presenting cells,
- MHC class II transport, peptide binding, and surface expression are normal
- abnormal platelet dense granule morphology (MGI Ref ID J:29151)
- although a normal number of dense granules stain with mepacrine, UV flashing is reduced by more than fivefold indicating an abnormal intragranular environment
- abnormal platelet dense granule number (MGI Ref ID J:29151)
- platelets nearly absent of dense granules
- decreased platelet aggregation (MGI Ref ID J:29151)
- decreased aggregation both in the presence of high or low concentrations of collagen
- decreased platelet serotonin level (MGI Ref ID J:29151)
- platelet serotonin levels are less than 6% those of normal
- cellular phenotype
- decreased lysosomal enzyme secretion (MGI Ref ID J:29151)
- lysosomal enzyme levels are increased in kidneys and there is an associated decrease in secretion into the urine
- thrombin-induced secretion of platelet lysosomal enzymes glucuronidase and galactosidase is only 30% to 45% of normal values and is not corrected by the addition of adenosine diphosphate
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:29151)
- although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules
- vision/eye phenotype
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:29151)
- although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules
- renal/urinary system phenotype
- abnormal proximal convoluted tubule morphology (MGI Ref ID J:29151)
- higher than normal autofluorescence, typical of ceroid-like pigment, is found in proximal tubules
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Ap3d1mh/Ap3d1mh
C57BL/6-pi
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:5511)
- 50-70% die between birth and 4 weeks of age depending on genetic background
- pigmentation phenotype
- diluted coat color (MGI Ref ID J:5511)
- both yellow (phaeomelanin) and black (eumelanin) hairs are diluted
- hairs in ear and around genitalia are white
- reduced eye pigmentation (MGI Ref ID J:5511)
- absence of visible eye pigment at birth
- eyes of adult mice appear deep red
- behavior/neurological phenotype
- abnormal motor capabilities/coordination/movement (MGI Ref ID J:5511)
- head tilt (MGI Ref ID J:5511)
- all do not overtly display this but all show imbalance when handled
- hyperactivity (MGI Ref ID J:5511)
- contributes to poor breeding and offspring neglect
- growth/size phenotype
- postnatal growth retardation (MGI Ref ID J:5511)
- at all ages mice are smaller than normal littermates
- hearing/vestibular/ear phenotype
- abnormal hearing physiology (MGI Ref ID J:5511)
- mice are initially hypersensitive to sound
- hearing loss progresses to complete deafness between 3-6 months of age
- abnormal inner ear morphology (MGI Ref ID J:5511)
- in surviving homozygous ranging 27 days or more
- abnormal stria vascularis (MGI Ref ID J:5511)
- almost always reduced
- abnormal vestibule morphology (MGI Ref ID J:5511)
- abnormal otolith morphology (MGI Ref ID J:89392)
- inconsistent occurrence of variable amounts and distribution of crystals in some mutants
- organ of Corti degeneration (MGI Ref ID J:5511)
- >by 100 days of age there is extensive loss of hair cells and distortion of supporting cells
- absent linear vestibular evoked potential (MGI Ref ID J:89392)
- head tilt (MGI Ref ID J:5511)
- all do not overtly display this but all show imbalance when handled
- reproductive system phenotype
- abnormal fertility/fecundity (MGI Ref ID J:5511)
- hyperactivity contributes to poor breeding performance and offspring neglect
- skin/coat/nails phenotype
- diluted coat color (MGI Ref ID J:5511)
- both yellow (phaeomelanin) and black (eumelanin) hairs are diluted
- hairs in ear and around genitalia are white
- vision/eye phenotype
- reduced eye pigmentation (MGI Ref ID J:5511)
- absence of visible eye pigment at birth
- eyes of adult mice appear deep red
- nervous system phenotype
- cochlear ganglion degeneration (MGI Ref ID J:5511)
- severe loss of cells in the spiral ganglion in animals over 100-days-old
- homeostasis/metabolism phenotype
- abnormal mineral level (MGI Ref ID J:50662)
- loss of vesicular zinc
- increased bleeding time (MGI Ref ID J:88018)
- greater than 15 minutes compared to normal 2 minute bleeding time
gr/gr
involves: A * STOCK fz
- lethality-prenatal/perinatal
- prenatal lethality (MGI Ref ID J:11987)
- some survive to birth
- cranial-facial defects commonly seen may contribute to mortality
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:11987)
- some mutants survive to maturity
- more females than males survive
- pigmentation phenotype
- absent coat pigmentation (MGI Ref ID J:24769)
- on a non-agouti background hairs on the ears and genitalia normally yellow are white
- diluted coat color (MGI Ref ID J:11987)
- dilutes yellow pigment (phaeomelanin)
- agouti mice look like chinchilla (A/A;cch/cch)
- growth/size phenotype
- abnormal postnatal growth/weight/body size (MGI Ref ID J:11987)
- abnormal body weight (MGI Ref ID J:11987)
- weight is 25% less than normal at birth and remains 10-20% below weight of normal littermates
- decreased body weight (MGI Ref ID J:11987)
- weight data between 2 and 6 weeks of age show females are 75-80% of normal weight; males are 90-95% of normal weight
- decreased body size (MGI Ref ID J:11987)
- reduced body size
- 20-30% smaller than normal littermates at birth
- 10% smaller than normal littermates as adults
- decreased body weight (MGI Ref ID J:11987)
- weight data between 2 and 6 weeks of age show females are 75-80% of normal weight; males are 90-95% of normal weight
- skin/coat/nails phenotype
- absent coat pigmentation (MGI Ref ID J:24769)
- on a non-agouti background hairs on the ears and genitalia normally yellow are white
- diluted coat color (MGI Ref ID J:11987)
- dilutes yellow pigment (phaeomelanin)
- agouti mice look like chinchilla (A/A;cch/cch)
- skeleton phenotype
- abnormal skeleton morphology (MGI Ref ID J:11987)
- abnormal craniofacial bone morphology (MGI Ref ID J:11987)
- commom among E16-18 fetuses; not seen among pups after birth
- craniofacial phenotype
- abnormal craniofacial bone morphology (MGI Ref ID J:11987)
- commom among E16-18 fetuses; not seen among pups after birth
- abnormal skull morphology (MGI Ref ID J:11987)
- reproductive system phenotype
- abnormal ovulation (MGI Ref ID J:11987)
- decreased ovulation frequency (MGI Ref ID J:11987)
- although low compared to normal, ovulation rate is consistent with smaller size of mutant mice
- limbs/digits/tail phenotype
- abnormal tail morphology (MGI Ref ID J:11987)
- kinked tail (MGI Ref ID J:11987)
- occasionally seen
- life span-post-weaning/aging
- premature death (MGI Ref ID J:11987)
- mortality occurs at all stages with loss of 50-60% of mutants
This mouse can be used to support research in many areas including:Ap3d1mh related
Pde6brd1 relatedDermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects
platelet storage pool deficiency
Neurobiology Research
Epilepsy
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
gr relatedMouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Craniofacial and Palate Defects
Growth Defects
Perinatal Lethality
Homozygous
Postnatal Mortality
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Ap3d1mh | ||
|---|---|---|---|
| Allele Name | mocha | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | mh; mocha; | ||
| Strain of Origin | C57BL/6-pi | ||
| Gene Symbol and Name | Ap3d1, adaptor-related protein complex 3, delta 1 subunit | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | AA407035; ADTD; Ap3d; Bolvr; bovine leukemia virus receptor; expressed sequence AA407035; hBLVR; mBLVR1; mh; mocha; | ||
| Molecular Note | The mutation is a 12 kb deletion that removes at least two exons, resulting in a 496 bp deletion of coding material shortly after the initiating ATG codon and causing an out of frame translation followed by a premature termination site. [MGI Ref ID J:50662] | ||
| Allele Symbol | gr | ||
| Allele Name | grizzled | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | A x STOCK-Sgk3fz | ||
| Gene Symbol and Name | gr, grizzled | ||
| Chromosome | 10 | ||
| Molecular Note | This allele maps to a region of homology with the human paralemmin gene, PALM. Direct sequencing of RNA from brains of homozygous mice and analysis of the paralemmin coding region showed no sequence abnormalities. [MGI Ref ID J:47933] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pdebrd1; rd; rd-1; rd1; rodless retina; | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Elewaut D; Lawton AP; Nagarajan NA; Maverakis E; Khurana A; Honing S; Benedict CA; Sercarz E; Bakke O; Kronenberg M; Prigozy TI. 2003. The adaptor protein AP-3 is required for CD1d-mediated antigen presentation of glycosphingolipids and development of Valpha14i NKT cells. J Exp Med 198(8):1133-46. [PubMed: 14557411] [MGI Ref ID J:86243]
Jones SM; Erway LC; Johnson KR; Yu H; Jones TA. 2004. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. [PubMed: 15109702] [MGI Ref ID J:89392]
Lane PW; Deol MS. 1974. Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. J Hered 65(6):362-4. [PubMed: 4448900] [MGI Ref ID J:5511]
Qiao X; Pennesi M; Seong E; Gao H; Burmeister M; Wu SM. 2003. Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain. Vision Res 43(8):859-65. [PubMed: 12668055] [MGI Ref ID J:88031]
Rolfsen RM; Erway LC. 1984. Trace metals and otolith defects in mocha mice. J Hered 75(3):159-62. [PubMed: 6736600] [MGI Ref ID J:7485]
Simpson F; Peden AA; Christopoulou L; Robinson MS. 1997. Characterization of the adaptor-related protein complex, AP-3. J Cell Biol 137(4):835-45. [PubMed: 9151686] [MGI Ref ID J:20036]
Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584] [MGI Ref ID J:29151]
Ap3d1mh relatedgr relatedGrabner CP; Price SD; Lysakowski A; Cahill AL; Fox AP. 2006. Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3. Proc Natl Acad Sci U S A 103(26):10035-40. [PubMed: 16788073] [MGI Ref ID J:111070]
Jones SM; Erway LC; Johnson KR; Yu H; Jones TA. 2004. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. [PubMed: 15109702] [MGI Ref ID J:89392]
Jones SM; Johnson KR; Yu H; Erway LC; Alagramam KN; Pollak N; Jones TA. 2005. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol 6(4):297-310. [PubMed: 16235133] [MGI Ref ID J:116914]
Kantheti P; Qiao X; Diaz ME; Peden AA; Meyer GE; Carskadon SL; Kapfhamer D; Sufalko D; Robinson MS; Noebels JL; Burmeister M. 1998. Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 21(1):111-22. [PubMed: 9697856] [MGI Ref ID J:50662]
Lane PW; Deol MS. 1974. Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. J Hered 65(6):362-4. [PubMed: 4448900] [MGI Ref ID J:5511]
Miller CL; Burmeister M; Stevens KE. 1999. Hippocampal auditory gating in the hyperactive mocha mouse. Neurosci Lett 276(1):57-60. [PubMed: 10586974] [MGI Ref ID J:59842]
Misawa H; Fujigaya H; Nishimura T; Moriwaki Y; Okuda T; Kawashima K; Nakata K; Ruggiero AM; Blakely RD; Nakatsu F; Ohno H. 2008. Aberrant trafficking of the high-affinity choline transporter in AP-3-deficient mice. Eur J Neurosci 27(12):3109-17. [PubMed: 18554297] [MGI Ref ID J:137410]
Noebels JL; Sidman RL. 1989. Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. J Neurogenet 6(1):53-6. [PubMed: 2778559] [MGI Ref ID J:96307]
Qiao X; Pennesi M; Seong E; Gao H; Burmeister M; Wu SM. 2003. Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain. Vision Res 43(8):859-65. [PubMed: 12668055] [MGI Ref ID J:88031]
Rolfsen RM; Erway LC. 1984. Trace metals and otolith defects in mocha mice. J Hered 75(3):159-62. [PubMed: 6736600] [MGI Ref ID J:7485]
Salazar G; Craige B; Styers ML; Newell-Litwa KA; Doucette MM; Wainer BH; Falcon-Perez JM; Dell'Angelica EC; Peden AA; Werner E; Faundez V. 2006. BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. Mol Biol Cell 17(9):4014-26. [PubMed: 16760431] [MGI Ref ID J:114481]
Scheuber A; Rudge R; Danglot L; Raposo G; Binz T; Poncer JC; Galli T. 2006. Loss of AP-3 function affects spontaneous and evoked release at hippocampal mossy fiber synapses. Proc Natl Acad Sci U S A 103(44):16562-7. [PubMed: 17056716] [MGI Ref ID J:115638]
Seong E; Wainer BH; Hughes ED; Saunders TL; Burmeister M; Faundez V. 2005. Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain. Mol Biol Cell 16(1):128-40. [PubMed: 15537701] [MGI Ref ID J:94942]
Sevilla LM; Richter SS; Miller J. 2001. Intracellular transport of MHC class II and associated invariant chain in antigen presenting cells from AP-3-deficient mocha mice. Cell Immunol 210(2):143-53. [PubMed: 11520080] [MGI Ref ID J:71349]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Swank RT; Novak EK; McGarry MP; Rusiniak ME; Feng L. 1998. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 11(2):60-80. [PubMed: 9585243] [MGI Ref ID J:88018]
Swank RT; Novak EK; McGarry MP; Zhang Y; Li W; Zhang Q; Feng L. 2000. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res 13 Suppl 8:59-67. [PubMed: 11041359] [MGI Ref ID J:103794]
Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584] [MGI Ref ID J:29151]
Bloom JL; Falconer DS. 1966. "Grizzled", a mutant in linkage group X of the mouse. Genet Res 7:159-167. [MGI Ref ID J:11987]
Bomar JM; Benke PJ; Slattery EL; Puttagunta R; Taylor LP; Seong E; Nystuen A; Chen W; Albin RL; Patel PD; Kittles RA; Sheffield VC; Burmeister M. 2003. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. (Erratum) Nat Genet 35(3):264-9. [PubMed: 14556008] [MGI Ref ID J:85793]
Burwinkel B; Miglierini G; Jenne DE; Gilbert DJ; Copeland NG ; Jenkins NA ; Ring HZ ; Francke U ; Kilimann MW. 1998. Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice. Genomics 49(3):462-6. [PubMed: 9615234] [MGI Ref ID J:47933]
Falconer DS. 1950. Mutant stocks Mouse News Lett 2:3. [MGI Ref ID J:24769]
Grabner CP; Price SD; Lysakowski A; Cahill AL; Fox AP. 2006. Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3. Proc Natl Acad Sci U S A 103(26):10035-40. [PubMed: 16788073] [MGI Ref ID J:111070]
Noebels JL; Sidman RL. 1989. Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. J Neurogenet 6(1):53-6. [PubMed: 2778559] [MGI Ref ID J:96307]
Qiao X; Pennesi M; Seong E; Gao H; Burmeister M; Wu SM. 2003. Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain. Vision Res 43(8):859-65. [PubMed: 12668055] [MGI Ref ID J:88031]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Southard JL. 1970. Jackson circler, jc. Mouse News Lett 42:30. [MGI Ref ID J:13506]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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| Important Note | |
| This strain is homozygous for the retinal degeneration allele Pde6brd1. | |
Control Information
| Control | ||
|---|---|---|
| ? +/+ ? untested from colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
See Terms of Use tab for General Terms and Conditions
The Jackson Laboratory's Genotype Promise
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
Purchasing Information
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Orders & Technical Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
Terms of Use
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Contracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.
In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.
No Liability
In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. In purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.