B6.C3Fe-Hps1^ep/J

Stock number: 000525
Product name: pale ear
Research areas: Dermatology Research, Hematological Research, Internal/Organ Research

Description

These mice carry a spontaneous mutation at the Hps1 locus characterized by diluted pigmentation of the ears and tail, as well as having a lysosomal dysfunction with increases in kidney Β-galactosidase and α-mannosidase.

Detailed description

Pale ear mice are recognized by diluted pigmentation of the ears and tail. Homozygotes show an increase in kidney Β-galactosidase and α-mannosidase. The effects of the mutation are lysosome specific since rates of kidney protein synthesis and activities of three non-lysosomal kidney enzymes are normal. Also, the mutation is relatively tissue specific in that all liver lysosomal enzyme concentrations are normal. A lowered rate of lysosomal enzyme secretion from kidney into urine is seen. While normal C57BL/6J mice daily secreted 27 to 30% of total kidney beta-glucuronidase and beta-galactosidase, secretion of these two enzymes is coordinately depressed to 1 to 2% of total kidney enzyme in the pale-ear mutant.

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. Dr. Eva Eicher received this strain from Dr. Green in or before 1976 and cryopreserved embryos in 1980 from C57BL/6J females bred to heterozygous males at generation N20F37.

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