Megf8b2b1702.2Clo
Chemically induced Allele Detail
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Symbol: |
Megf8b2b1702.2Clo |
Name: |
multiple EGF-like-domains 8; Bench to Bassinet Program (B2B/CVDC), mutation 1702, subline 2 Cecilia Lo |
MGI ID: |
MGI:5437080 |
Synonyms: |
TLC |
Gene: |
Megf8 Location: Chr7:25016589-25065342 bp, + strand Genetic Position: Chr7, 13.75 cM
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Alliance: |
Megf8b2b1702.2Clo page
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Mutant 1702-007-1 (E16.5) exhibits dextrocardia and displaced outflow tracts, later diagnosed as Taussig-Bing type double outlet right ventricle (DORV) by ECM histopathology.
Show the 7 phenotype image(s) involving this allele.
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Strain of Origin: |
C57BL/6J
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Project Collection: |
B2B/CvDC
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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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 b2b1702Clo. The molecular lesion for this subline is an A to G single point mutation at coding nucleotide 442 in exon 3 of the cDNA (c.442A>G, NM_001160400). This changes the asparagine residue to aspartic acid at position 148 of the encoded protein (p.N148D).
(J:175213)
Additional
incidental mutations
were detected in sequencing for the causative mutation,
Megf8b2b1702.2Clo, and may be present in stocks carrying this mutation.
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View phenotypes and curated references for all genotypes (concatenated display).
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Summative Diagnosis:
Cardiovascular phenotypes: Heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA;{SDD}) and dextrocardia with double outlet right ventricle (DORV;{ILL}).
Noncardiovascular phenotype: anophthalmia, short snout, micrognathia, cleft palate
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