Ift140^cauli
Chemically induced Allele Detail

Summary

• Symbol: Ift140^cauli
• Name: intraflagellar transport 140; cauliflower
• MGI ID: MGI:4458412
• Gene: Ift140 Location: Chr17:25235056-25318461 bp, + strand Genetic Position: Chr17, 12.53 cM
• Alliance: Ift140^cauli page

Craniofacial and skeletal mutants: (A-D) Fras1^bfb, (E-G) Ift140^cauli, (H-J) knyn, and (K-M) Crkl^snoopy 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 details: The 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

Disease models

Expression

In Structures Affected by this Mutation:

29 anatomical structure(s)

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: 71 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)