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Kcnn2bc-7J
Spontaneous Allele Detail
Summary
Symbol: Kcnn2bc-7J
Name: potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2; bouncy 7 Jackson
MGI ID: MGI:5140330
Gene: Kcnn2  Location: Chr18:45401927-45818950 bp, + strand  Genetic Position: Chr18, 24.34 cM, cytoband C
Alliance: Kcnn2bc-7J page
Mutation
origin
Strain of Origin:  B6.129P2-Apoetm1Unc/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis spontaneous A-to-T transition at chromosome 18 position 45,685,419 (GRCm38) causes a nonsense mutation in the fourth exon changing amino acid 528/793/803 from arginine to a stop codon (NP_536713:p.R528*, ENSMUSP00000067884:p.R793*, NP_001299834:p.R803*). (J:207676, J:222308)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Kcnn2 Mutation:  43 strains or lines available
References
Original:  J:207676 Dionne LA, et al., The bouncy alleles are mutations in the Kcnn2 gene. MGI Direct Data Submission. 2014;
All:  2 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
04/23/2024
MGI 6.23
The Jackson Laboratory