Aifm1^Hq
Spontaneous Allele Detail

Summary

• Symbol: Aifm1^Hq
• Name: apoptosis-inducing factor, mitochondrion-associated 1; harlequin
• MGI ID: MGI:1861097
• Synonyms: Hq, Pcdc8^hq
• Gene: Aifm1 Location: ChrX:47563821-47602440 bp, - strand Genetic Position: ChrX, 25.68 cM, cytoband A6
• Alliance: Aifm1^Hq page

Aifm1^Hq/Y

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: CF-1

Mutation description

• Allele Type: Spontaneous
• Mutation: Viral insertion
• Mutation details: The harlequin mutation is an ecotropic proviral insertion at the Pdcd8 gene. This insertion leads to an 80% decrease in transcipt and protein levels, relative to wild-type controls. (J:78983)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	87 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Aifm1 Mutation: 11 strains or lines available

Notes

Although initial reports indicated that ataxia was more severe in males than females, later unpublished reports indicate that there is no significant difference in severity of the ataxia phenotype between hemizygous males and homozygous females (S. Ackerman, personal communication)

References

• Original: J:15073 Barber BR, Two new mutations. Mouse News Lett. 1971;45:34-5
• All: 41 reference(s)