Ap3b2^m1J
Spontaneous Allele Detail

Summary

• Symbol: Ap3b2^m1J
• Name: adaptor-related protein complex 3, beta 2 subunit; mutation 1, Jackson
• MGI ID: MGI:5302660
• Gene: Ap3b2 Location: Chr7:81110147-81143673 bp, - strand Genetic Position: Chr7, 45.71 cM
• Alliance: Ap3b2^m1J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: This spontaneous mutation has a 2 base pair (GT) deletion in Chromosome 7 base pairs 88,618,348 and 88,618,349, which falls in exon 15 and is predicted to cause a frameshift and stop codon at amino acid 572. Western blot analysis failed to detect this protein in homozygotes and detected only half-normal levels in heterozygotes. (J:205908)
• Inheritance: Recessive

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 Ap3b2 Mutation: 66 strains or lines available

References

• Original: J:205908 Boumil RM, et al., Two spontaneous mouse mutations in the Ap3b2 gene. MGI Direct Data Submission. 2014
• All: 1 reference(s)