STOCK Ap3d1^mh-4J/GrsrJ

Stock number: 022088
Research areas: Neurobiology Research, Reproductive Biology Research, Sensorineural Research

Description

Mutations in Ap3d1 provide models for Hermansky-Pudlak storage pool deficiency syndrome.

Detailed description

Mice homozygous for the mocha 4 Jackson mutation are noticeably smaller than normal by 2 weeks of age, and develop a head tilt, constant quivering, gauntness and overall frailty. This strain is homozygous for albino so any impact that this mutation may have on pigmentation is not visible. Males homozygotes have not bred and females are poor breeders so this strain should be maintained by breeding heterozygotes. Bleed-time has not been assessed for this allele.

Development

The mocha 4 Jackson mutation was identified in the F2 population of a mapping outcross between B6(129P2)-shsn/GrsrJ and BALB/cByJ. This mutation was backcrossed onto BALB/cByJ three times before sperm was cryopreserved from heterozygous males.

Allele

Symbol: Ap3d1^mh-4J
Name: mocha 4 Jackson
MGI accession ID: MGI:5484771
Generation method: Spontaneous
Marker symbol: Ap3d1
Marker name: adaptor-related protein complex 3, delta 1 subunit
Marker synonyms: ADTD; Ap3d; Bolvr; hBLVR; HPS10; mBLVR1
Chromosome: 10
Strain of origin: (B6(129P2)-shsn/GrsrJ x BALB/cJ)F2
Molecular note: This spontaneous 8 base pair deletion of GTAGCAGG from chromosome 10 position 80,709,203-210 (GRCm38) causes a frameshift mutation beginning at amino acid position 1098 and subsequent premature termination.
General note: Because this spontaneous mutation arose on and was characterized on an albino background it is not known whether it causes diluted pigmentation.