Wdr35^yeti
Chemically induced Allele Detail

Summary

• Symbol: Wdr35^yeti
• Name: WD repeat domain 35; yeti
• MGI ID: MGI:5500169
• Synonyms: eti, Wdr35^yet
• Gene: Wdr35 Location: Chr12:9023897-9078848 bp, + strand Genetic Position: Chr12, 3.97 cM, cytoband A1.3
• Alliance: Wdr35^yeti page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The 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)

Disease models

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: 70 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)