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| Nomenclature |
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Symbol:
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Ift172avc1
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Name:
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intraflagellar transport 172;
atrioventricular canal 1
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MGI ID: |
MGI:4821824 |
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Gene:
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Ift172
Location:
Chr5:31253280-31291114 bp, - strand
Genetic Position: Chr5,
17.27 cM, cytoband B1
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ift172 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
