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Chemically induced Allele Detail
Symbol: Ift172avc1
Name: intraflagellar transport 172; atrioventricular canal 1
MGI ID: MGI:4821824
Gene: Ift172  Location: Chr5:31253277-31291116 bp, - strand  Genetic Position: Chr5, 17.27 cM, cytoband B1
Strain of Origin:  C57BL/6J
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsENU 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)
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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:  4 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:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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