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| Nomenclature |
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Symbol:
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Megf8b2b288Clo
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Name:
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multiple EGF-like-domains 8;
Bench to Bassinet Program (B2B/CVDC), mutation 288 Cecilia Lo
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MGI ID: |
MGI:5311364 |
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Synonyms: |
M8, Megf8c.A3641T |
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Gene:
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Megf8
Location:
Chr7:25317164-25365917 bp, + strand
Genetic Position: Chr7,
13.75 cM
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Dextrocardia
Show the 10 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. The causitive molecular lesion for the cardiovascular phenotypes is a A to T single point mutation at postition 3641 of the cDNA (c.A3641T) (Ref seq NM_001160400). This is predicted to alter an arginine residue to an isoleucine at position 1214 (p.N1214I) in the encoded protein. (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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Notes |
Summative Diagnosis:
Cardiovascular defects: Hetertoaxy with complex congenital heart disease such as transposition of the great arteries (TGA;{SDD}) and dextrocardia with double outlet right ventricle (DORV;{ILL}).
Non-cardiac phenotype: Cleft palate
Phenotypic Similarity to Human Syndrome: Heterotaxy, Carpenter Syndrome
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Analysis Tools
