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Allele : Dnah5<b2b3491Clo> dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 3491 Cecilia Lo

Primary Identifier  MGI:5648248 Allele Type  Chemically induced (ENU)
Gene  Dnah5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: Dextrocardia, complex congenital heart defect associated with heterotaxy.

Noncardiovascular phenotype: Visceral organ situs anomalies.
molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to T substitution at coding nucleotide 6766 in exon 41 of the cDNA (c.6766A>T, NM_133365). This changes the methionine residue to leucine at position 2256 of the encoded protein (p.M2256L). 
  • mutations:
  • Undefined
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories