DBA/1LacJ-Ap3b1^pe-7J/J

Stock number: 002531
Product name: pearl 7 Jackson
Research areas: Dermatology Research, Hematological Research, Internal/Organ Research

Description

These mice carry the spontaneous Ap3b1^pe-7J mutation with effects on skin, hair, and eye color.

Detailed description

Ap3b1^pe-7J was proven to be an allele of Ap3b1 by an allele test mating with Ap3b1^pe. Generally, mutations in Ap3b1 affect skin, hair, and eye color. Skin of the ears, feet, and tail of homozygous Ap3b1^pe-7J mice are lighter than wild-type mice. The eye color and coat color are influenced by dilution of non-agouti brown pigmentation from the strain background DBA/1LacJ. Eyes of homozygous adult Ap3b1^pe-7J mice have a ruby cast and their coat color is a diluted gray-brown.

Development

The pearl 7 Jackson mutation arose spontaneously in the DBA/1LacJ inbred strain when it was at generation F131. This mutant subline was maintained coisogenic on this background by intercrossing heterozygotes and homozygotes. In 2002 embryos were cryopreserved from homozygous males at generation F131+16 with either homozygous or heterozygous females at generation F131+14N1F1.

Allele

Symbol: Ap3b1^pe-7J
Name: pearl 7 Jackson
MGI accession ID: MGI:1861610
Generation method: Spontaneous
Marker symbol: Ap3b1
Marker name: adaptor-related protein complex 3, beta 1 subunit
Marker synonyms: ADTB3; ADTB3A; AP-3; beta3A; HPS; HPS2; PE; recombination induced mutation 2; rim2
Chromosome: 13
Strain of origin: DBA/1LacJ
Molecular note: The molecular lesion in pe^7J has not yet been resolved.
General note: Mice from this strain were not tested for differences in lysosomal enzymes or for platelet storage pool deficiency, both of which are common in other Ap3b1 mutations.