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Wdr35yeti
Chemically induced Allele Detail
Summary
Symbol: Wdr35yeti
Name: WD repeat domain 35; yeti
MGI ID: MGI:5500169
Synonyms: eti, Wdr35yet
Gene: Wdr35  Location: Chr12:9023897-9078848 bp, + strand  Genetic Position: Chr12, 3.97 cM, cytoband A1.3
Alliance: Wdr35yeti page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutant mouse line yeti was isolated in a recessive ENU mutagenesis screen for genes affecting embryonic development. The locus was mapped to a 3.5 Mb interval between rs6278243 and rs29154438 on chromosome 12. A single G>A mutation was identified in the splice acceptor site of exon 22. RT-PCR analysis of cDNA confirmed aberrant splicing of the Wdr35 mRNA in heterozygous and homozygous embryos. Sequencing of these mutant splice variants revealed frameshifts in all transcripts. Noncomplementation of this allele with an embryonic stem cell derived targeted null allele proves that the mutant phenotype is due to this point mutation. (J:171617)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 9 assay results
In Structures Affected by this Mutation: 9 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 Wdr35 Mutation:  69 strains or lines available
References
Original:  J:171617 Mill P, et al., Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis. Am J Hum Genet. 2011 Apr 8;88(4):508-15
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
03/12/2024
MGI 6.23
The Jackson Laboratory