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Wdr19twto
Chemically induced Allele Detail
Nomenclature
Symbol: Wdr19twto
Name: WD repeat domain 19; twinkle-toes
MGI ID: MGI:5315747
Synonyms: Ift144twt
Gene: Wdr19  Location: Chr5:65199696-65260415 bp, + strand  Genetic Position: Chr5, 33.58 cM
Mutation
origin
Strain of Origin:  FVB/NJ
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsMice carrying Tg(Hba1-Gfp)1Ew were treated with ENU. A C to T 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 25 anatomical structures
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:  22 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)

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
06/04/2019
MGI 6.14
The Jackson Laboratory