Wdr19^twto
Chemically induced Allele Detail

Summary

• Symbol: Wdr19^twto
• Name: WD repeat domain 19; twinkle-toes
• MGI ID: MGI:5315747
• Synonyms: Ift144^twt
• Gene: Wdr19 Location: Chr5:65357039-65417758 bp, + strand Genetic Position: Chr5, 33.58 cM
• Alliance: Wdr19^twto page

Mutation origin

• Strain of Origin: FVB/NJ

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: Mice carrying Tg(Hba1-Gfp)1Ew were treated with ENU. A T to C transition was identified at position 2249 in exon 19 causing a leucine-to-proline substitution at amino acid position 750. Immunofluorescence analysis detected protein expression in mutant MEFs. This is a hypomorphic allele. (J:99816, J:181888)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	112 assay results
In Structures Affected by this Mutation:	23 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 Wdr19 Mutation: 32 strains or lines available

References

• Original: J:181888 Ashe A, et al., Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Hum Mol Genet. 2012 Apr 15;21(8):1808-23
• All: 4 reference(s)