Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Wdr19twto
Name:	WD repeat domain 19; twinkle-toes
MGI ID:	MGI:5315747
Synonyms:	Ift144twt
Gene:	Wdr19  Location: Chr5:65357039-65417758 bp, + strand  Genetic Position: Chr5, 33.58 cM
Alliance:	Wdr19twto page

Strain of Origin:

FVB/NJ

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	112 assay results
In Structures Affected by this Mutation:	23 anatomical structure(s)

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

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)