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

Symbol:	Ift172avc1
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:	Ift172avc1 page

Strain of Origin:

C57BL/6J

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)

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

In Structures Affected by this Mutation:

18 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 Ift172 Mutation:	75 strains or lines available

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)