B6.C3Fe-H51 Hps1^ep/ByJ

Stock number: 000050
Research areas: Dermatology Research, Hematological Research, Internal/Organ Research

Description

TThis congenic strain carries the H51 minor histocompatibility allele from C3HeB/FeJ (Stock No. 000658) along with the pale-ear mutation (Hsp1^ep) that arose on C3HeB/FeJ.

Development

The mutation pale ears (ep) arose spontaneously in strain C3HeB/FeJ at the Jackson Laboratory in 1957. This mutation was maintained on this background by sibling inbreeding with forced heterozygosis by Dr. E. L. Green who subsequently backcrossed the mutation onto C57BL/6J, reaching generation N15 in 1968, and N20F18 in 1974. In 1972 Dr. Don Bailey reported finding numerous C57BL/6J congenic lines with marker genes not to be isocongenic with C57BL/6J by the usual test cross method. One of these histocompatibility loci was temporarily called H(ep) and was located about 16 units from ep (Bailey and Bunker, 1972). This temporary H(ep) locus was likely H51. Dr. Bailey received this strain at generation N20F3 and outcrossed once to C57BL/6By before again maintaining by sibling inbreeding. This strain was cryopreserved in 1979 by mating wildtype (+/+) females with homozygous males at generation B6JN20F3B6ByN1F19.

Allele

Symbol: Hps1^ep
Name: pale-ear
MGI accession ID: MGI:1856712
Generation method: Spontaneous
Synonyms: ep
Marker symbol: Hps1
Marker name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
Marker synonyms: 6030422N11Rik; BLOC3S1; Hermansky-Pudlak syndrome 1; HPS
Chromosome: 19
Strain of origin: C3HeB/FeJ
Molecular note: The underlying mutation responsible for the phenotype in the pale ear mouse was identified as an insertion of an intracisternal A particle in a protein coding- 3' exon of the Hps1 gene. Northern analysis demonstrated qualitative differences in mRNA between wild-type and homozygous mutant animals.
General note: Genbank ID for mutant allele: AF003867

Allele

MGI accession ID: MGI:95998
Marker symbol: H51
Marker name: histocompatibility 51
Marker synonyms: H(ep)
Chromosome: 19