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Kcne1pkr
Spontaneous Allele Detail
Summary
Symbol: Kcne1pkr
Name: potassium voltage-gated channel, Isk-related subfamily, member 1; punk rocker
MGI ID: MGI:1889639
Gene: Kcne1  Location: Chr16:92142889-92156356 bp, - strand  Genetic Position: Chr16, 53.57 cM
Alliance: Kcne1pkr page
Inner ear cross-sections of 3 month old Kcne1pkr/Kcne1pkr and Kcne1pkr/+

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/10J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA C-to-T nucleotide substitution in the third exon causes an arginine to be altered to a termination codon at amino acid position 67 (p.R67*). (J:64772)
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: 6 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Kcne1 Mutation:  13 strains or lines available
References
Original:  J:64772 Letts VA, et al., A new spontaneous mouse mutation in the kcne1 gene. Mamm Genome. 2000 Oct;11(10):831-5
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
11/12/2024
MGI 6.24
The Jackson Laboratory