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| Nomenclature |
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Symbol:
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Tmem67b2b1291.1Clo
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Name:
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transmembrane protein 67;
Bench to Bassinet Program (B2B/CVDC), mutation 1291, subline 1 Cecilia Lo
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MGI ID: |
MGI:5437086 |
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Gene:
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Tmem67
Location:
Chr4:12039363-12090020 bp, - strand
Genetic Position: Chr4,
5.56 cM
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Mutant 1291-006-LA exhibits heterotaxy with levocardia and dextrogastria
Show the 5 image(s) involving this allele.
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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: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1291Clo. The molecular lesion is a T-to-A single point mutation at position 1120 of the cDNA (c.T1120A, NM_177861) that is predicted to cause a tyrosine to asparagine amino acid substitution at position 374 of the encoded protein (p.Y374N). (J:175213)
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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 Tmem67 Mutation:
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5 strains or lines available |
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Notes |
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Heterotaxy with levocardia and dextrogastria
Noncardiovascular phenotype: Polycystic kidney disease
Phenotypic Similarity to Human Syndrome: Mutant Type 1: Heterotaxy, Polycystic kidney disease
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Analysis Tools
