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Agpsbs2
Spontaneous Allele Detail
Summary
Symbol: Agpsbs2
Name: alkylglycerone phosphate synthase; blind-sterile 2
MGI ID: MGI:3777322
Gene: Agps  Location: Chr2:75662521-75761694 bp, + strand  Genetic Position: Chr2, 44.77 cM
Alliance: Agpsbs2 page
Mutation
origin
Strain of Origin:  C3H/HeOuJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA spontaneous mutation results in the G to A transition in intron 14 (IVS14+5G>A) that results in the production of two truncated transcripts that skip exon 14 or exons 13+14 causing frame shifts and premature stop codons (Glu467fsX474 and Phe441fsX456). (J:171265)
Inheritance:    Recessive
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: 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 Agps Mutation:  80 strains or lines available
References
Original:  J:156373 Chang B, et al., Mouse models of ocular diseases. Vis Neurosci. 2005 Sep-Oct;22(5):587-93
All:  3 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
04/16/2024
MGI 6.23
The Jackson Laboratory