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Aifm1Hq
Spontaneous Allele Detail
Nomenclature
Symbol: Aifm1Hq
Name: apoptosis-inducing factor, mitochondrion-associated 1; harlequin
MGI ID: MGI:1861097
Synonyms: Hq, Pcdc8hq
Gene: Aifm1  Location: ChrX:48474944-48513563 bp, - strand  Genetic Position: ChrX, 25.68 cM, cytoband A6
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 detailsThe 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 Structures Affected by this Mutation: 14 anatomical structures
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 Aifm1 Mutation:  9 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Although initial reports indicated that ataxia was more severe in males than females, later unpublished reports indicate that there is no significant difference in severity of the ataxia phenotype between hemizygous males and homozygous females (S. Ackerman,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:  31 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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last database update
11/26/2019
MGI 6.14
The Jackson Laboratory