Ap3d1^mh-4J
Spontaneous Allele Detail

Summary

• Symbol: Ap3d1^mh-4J
• Name: adaptor-related protein complex 3, delta 1 subunit; mocha 4 Jackson
• MGI ID: MGI:5484771
• Gene: Ap3d1 Location: Chr10:80542790-80578098 bp, - strand Genetic Position: Chr10, 39.72 cM
• Alliance: Ap3d1^mh-4J page

Mutation origin

• Strain of Origin: (B6(129P2)-shsn/GrsrJ x BALB/cJ)F2

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: 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. (J:207488, J:222308)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 79 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: 4 reference(s)