This strain is homozygous for the retinal degeneration allele Pde6brd1.
The mh-2J allele of Ap3d causes a similar yet less severe pigment dilution than that caused by the mh allele, but each causes a different neurological phenotype. These homozygotes are recognizable by a lighter coat color and decreased pigmentation in the eyes. For the Ap3dmh allele, this coat color dilution has been shown to result from smaller and fewer melanin granules in the hairs. While both alleles cause similar degrees of hyperactivity, the cochlear degeneration and accompanying head tilt is observed less frequently in the Ap3dmh-2J homozygotes and the auditory evoked brain responses in these mice are similar to wildtype. At three months of age, mice homozygous for the Ap3dmh allele have significantly increased auditory evoked potentials after the first of two paired tones. Ap3dmh-2J homozygotes also show an increased response to the first tone, but this has not been proven with statistical significance. Ap3dmh-2J homozygotes have spike-wave and tonic clonic seizures but do not display the hypersynchronized electrocorticograms of Ap3dmh homozygotes. Mutations in human AP3D cause a form of Hermansky-Pudlak syndrome. Characterization of platelet storage pool deficiency and increased bleed time or lysosomal defects have not yet been reported for the Ap3dmh-2J allele, but are well described for the Ap3dmh allele. (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 homozygous for the rd1 allele of Pde6b resulting in early onset retinal degeneration in all pups. (Qiao et al., 2003.)
The Ap3dmh-2J allele arose spontaneously on the C3H/HeJ background at The Jackson Laboratory in 1972 when that inbred was at generation F134. The mutant subline was sibling mated four generations then backcrossed 4 generations to C3H/HeJ. In 1982 Homozygous N4 males were bred to C3H/HeJ females to generate heterozygous embryos for cryopreservation. In 2010 cryo-recovered heterozygotes from this 1982 bankstock were intercrossed to generate homozygous males from which sperm were cryopreserved to replenish the cryopreserved resource.
|Allele Name||mocha 2 Jackson|
|Allele Type||Spontaneous (Hypomorph)|
|Gene Symbol and Name||Ap3d1, adaptor-related protein complex 3, delta 1 subunit|
|Strain of Origin||C3H/HeJ|
|General Note||Genbank ID for this allele: AF469668, AF469669, AF469670, AF469671, AH012500|
|Molecular Note||The mutation was identified as a viral-like, intracisternal A particle (IAP) insertion at an intron exon boundary. The mutation results in a C-terminally truncated protein. Both low levels of normal and larger amounts of the mutant transcript are present in this hypomorphic allele.|
Mutants are very poor breeders.
When using the mocha 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #000511 in your Materials and Methods section.
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