DBA/2J-Ap3b1^pe-8J/J

Stock number: 002510
Product name: pearl 8 Jackson
Research areas: Dermatology Research, Hematological Research, Internal/Organ Research

Detailed description

Appearance: Ap3b1^pe-8J/Ap3b1^pe-8J, lighter brown than normal DBA/2J mice.

Development

The Ap3b1^pe-8J mutation occurred spontaneously in a DBA/2J colony at The Jackson Laboratory in 1992.

Allele

Symbol: Ap3b1^pe-8J
Name: pearl 8 Jackson
MGI accession ID: MGI:1857676
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/2J
Molecular note: The molecular lesion responsible for the phenotype in pe^8J mice consists of a 107-bp deletion in the Ap3b1 gene that alters the reading frame and produces a premature termination site. This results in the addition of 12 novel amino acids followed by a truncation eliminating 233 amino acids from the carboxy terminus.