Dnah5^b2b3491Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah5^b2b3491Clo
• Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 3491 Cecilia Lo
• MGI ID: MGI:5648248
• Gene: Dnah5 Location: Chr15:28203898-28472198 bp, + strand Genetic Position: Chr15, 10.9 cM
• Alliance: Dnah5^b2b3491Clo page

Mutant 3491-005-1 exhibit dextrocardia.

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Undefined
• Mutation details: 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). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Dnah5 Mutation: 252 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Dextrocardia, complex congenital heart defect associated with heterotaxy.

Noncardiovascular phenotype: Visceral organ situs anomalies.

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 1 reference(s)