Ift172^avc1
Chemically induced Allele Detail

Summary

• Symbol: Ift172^avc1
• Name: intraflagellar transport 172; atrioventricular canal 1
• MGI ID: MGI:4821824
• Gene: Ift172 Location: Chr5:31410623-31448458 bp, - strand Genetic Position: Chr5, 17.27 cM, cytoband B1
• Alliance: Ift172^avc1 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis generated an A to G transition mutation in the splice donor site downstream of exon 24. This mutation results in the production of a transcript that skips exon 24, translation of this transcript is expected to result in a frame shift and premature termination in exon 25. Whole mount in situ and western blot analysis indicated that wild-type protein expression is greatly reduced in homozygous embryos at E10.5. (J:163196, J:175371)

Disease models

Expression

In Structures Affected by this Mutation:

18 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 Ift172 Mutation: 75 strains or lines available

References

• Original: J:163196 Kamp A, et al., Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet. 2010 Aug 15;19(16):3105-13
• All: 6 reference(s)