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Zpld1cwh
Spontaneous Allele Detail
Nomenclature
Symbol: Zpld1cwh
Name: zona pellucida like domain containing 1; circler with hearing
MGI ID: MGI:6356634
Gene: Zpld1  Location: Chr16:55225175-55297986 bp, - strand  Genetic Position: Chr16, 33.65 cM
Mutation
origin
Strain of Origin:  B6.129P2-Nos2tm1Lau/J
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsA single point mutation in exon 4, c.155A>T, changes an AAG codon to AUG changing a lysine to methionine at residue 52 (p.K52M), which is in the zona pelucida domain. (J:278455)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Zpld1 Mutation:  17 strains or lines available
References
Original:  J:278455 Vijayakumar S, et al., Spontaneous mutations of the Zpld1 gene in mice cause semicircular canal dysfunction but do not impair gravity receptor or hearing functions. Sci Rep. 2019 Aug 27;9(1):12430
All:  1 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
04/06/2021
MGI 6.16
The Jackson Laboratory