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Atp2b2wri
Spontaneous Allele Detail
Summary
Symbol: Atp2b2wri
Name: ATPase, Ca++ transporting, plasma membrane 2; wriggle
MGI ID: MGI:1857092
Synonyms: WMS, wri, Wriggle Mouse Sagami
Gene: Atp2b2  Location: Chr6:113720803-114019574 bp, - strand  Genetic Position: Chr6, 52.85 cM
Alliance: Atp2b2wri page
Mutation
origin
Strain of Origin:  BALB/cAnN
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-A transition point mutation at position 1234 is predicted to cause a glutamine to lysine substitution at position 412 in the encoded protein possibly leading to altered calcium transport from the cytosol to the extracellular space. (J:56737)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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 Atp2b2 Mutation:  66 strains or lines available
References
Original:  J:13355 Inoue Y, et al., Abnormal synaptic architecture in the cerebellar cortex of a new dystonic mutant mouse, Wriggle Mouse Sagami. Neurosci Res. 1993 Jan;16(1):39-48
All:  11 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
12/10/2024
MGI 6.24
The Jackson Laboratory