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Aifm1Hq
Spontaneous Allele Detail
Summary
Symbol: Aifm1Hq
Name: apoptosis-inducing factor, mitochondrion-associated 1; harlequin
MGI ID: MGI:1861097
Synonyms: Hq, Pcdc8hq
Gene: Aifm1  Location: ChrX:47563821-47602440 bp, - strand  Genetic Position: ChrX, 25.68 cM, cytoband A6
Alliance: Aifm1Hq page
Aifm1Hq/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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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Although initial reports indicated that ataxia was more severe in males than females, later unpublished reports indicate that there is no significant difference in severity of the ataxia phenotype between hemizygous males and homozygous females (S. Ackerman,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)
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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Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory