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Ap3d1mh-4J
Spontaneous Allele Detail
Nomenclature
Symbol: Ap3d1mh-4J
Name: adaptor-related protein complex 3, delta 1 subunit; mocha 4 Jackson
MGI ID: MGI:5484771
Gene: Ap3d1  Location: Chr10:80706956-80742264 bp, - strand  Genetic Position: Chr10, 39.72 cM
Mutation
origin
Strain of Origin:  (B6(129P2)-shsn/GrsrJ x BALB/cJ)F2
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThis spontaneous 8 base pair deletion of Chromosome 10 position 80,171,948-80,171,955 bp (MGSCv37/mm9) is predicted to cause a frameshift mutation beginning at amino acid position 1098. (J:207488, J:222308)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ap3d1 Mutation:  9 strains or lines available
Notes
Because this spontaneous mutation arose on and was characterized on an albino background it is not known whether it causes diluted pigmentation.
References
Original:  J:207488 Aloia L, et al., Zrf1 is required to establish and maintain neural progenitor identity. Genes Dev. 2014 Jan 15;28(2):182-97
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory