Dnai2^b2b3405Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnai2^b2b3405Clo
• Name: dynein axonemal intermediate chain 2; Bench to Bassinet Program (B2B/CVDC), mutation 3405 Cecilia Lo
• MGI ID: MGI:5619080
• Gene: Dnai2 Location: Chr11:114618234-114648715 bp, + strand Genetic Position: Chr11, 80.19 cM
• Alliance: Dnai2^b2b3405Clo page

Mutant exhibits situs inversus totalis.

Show the 4 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 a T to A substitution at coding nucleotide 1109 in exon 9 of the cDNA (c.1109T>A, NM_001034878). This changes the leucine residue to histidine at position 370 of the encoded protein (p.L370H). (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 Dnai2 Mutation: 41 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Laterality defect with dextrocardia associated with situs inversus totalis.

Noncardiovascular phenotype: Visceral organ situs inversus, immotile respiratory cilia

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Codes	Code Description
100	Situs inversus totalis
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906	Non-cardiac abnormality

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: 2 reference(s)