Ap1g1^fgt
Spontaneous Allele Detail

Summary

• Symbol: Ap1g1^fgt
• Name: adaptor protein complex AP-1, gamma 1 subunit; figure eight
• MGI ID: MGI:5755140
• Gene: Ap1g1 Location: Chr8:110505215-110590842 bp, + strand Genetic Position: Chr8, 57.26 cM
• Alliance: Ap1g1^fgt page

Mutation origin

• Strain of Origin: C57BL/6-Tg(APOA1)1Rub/J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: This spontaneous 6 bp deletion of TTTCTG in exon 13 of NM009677, isoform 1, and exon 12 of Nm002301211, isoform 2, is predicted to cause an in-frame deletion of F391 and L392 of isoform 1, or F388 and L389 of isoform 2, amino acids which are in the adaptin N-terminal homology domain involved in interactions with other subunitos of the AP-1 complex. (J:230572)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

7 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 Ap1g1 Mutation: 47 strains or lines available

References

• Original: J:230572 Johnson KR, et al., A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice. Mamm Genome. 2016 Jun;27(5-6):200-12
• All: 1 reference(s)