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 si...
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Ap3d1||adaptor-related protein complex 3, delta 1 subunit|
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Pde6b||phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Allele Type||Gene Symbol||Gene Name|
This strain is homozygous for the retinal degeneration allele Pde6brd1.
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.)
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.
|Allele Synonym(s)||mh; mocha|
|Gene Symbol and Name||Ap3d1, adaptor-related protein complex 3, delta 1 subunit|
|Gene Synonym(s)||AA407035; ADTD; Ap3d; Bolvr; Bolvr; bovine leukemia virus receptor; expressed sequence AA407035; hBLVR; mBLVR1; mh; mocha|
|Strain of Origin||B6.C3-Grxcr1 |
|Allele Name||retinal degeneration 1|
|Allele Synonym(s)||Pdebrd1; rd; rd-1; rd1; rodless retina|
|Gene Symbol and Name||Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Gene Synonym(s)||CSNB3; CSNBAD2; PDEB; Pdeb; Pdeb; RP40; nmf137; phosphodiesterase, cGMP, rod receptor, beta polypeptide; r; r; rd; rd; rd-1; rd1; rd1; rd10; rd10; retinal degeneration; retinal degeneration 1; retinal degeneration 10|
|Strain of Origin||various|
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical).
The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to
ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery
will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the
genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the
recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of
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