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Ift140cauli
Chemically induced Allele Detail
Nomenclature
Symbol: Ift140cauli
Name: intraflagellar transport 140; cauliflower
MGI ID: MGI:4458412
Gene: Ift140  Location: Chr17:25016085-25099495 bp, + strand  Genetic Position: Chr17, 12.53 cM
Craniofacial and skeletal mutants: (A-D) Fras1bfb, (E-G) Ift140cauli, (H-J) knyn, and (K-M) Crklsnoop homozygotes

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6JAnu
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutation, in exon 19 of the gene, comprises a T to A transversion at nucleotide position 3109 of the cDNA sequence (ENSMUST00000024983) that results in replacement of isoleucine by lysine at amino acid position 855 of the protein (I855K). Western blot of E11.5 embryos indicates a reduction of protein to about 85% of wild-type levels in heterozygotes and about 30% of wild-type levels in homozygotes. RT-PCR indicates an approximate 30% decrease in homozygotes compared to wild-type mice. (J:199856, J:220659)
Inheritance:    Not Specified
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: 32 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ift140 Mutation:  50 strains or lines available
References
Original:  J:199856 Caruana G, et al., Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease. PLoS One. 2013;8(3):e55429
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
10/08/2019
MGI 6.14
The Jackson Laboratory