Tmem67^b2b1291.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Tmem67^b2b1291.1Clo
• Name: transmembrane protein 67; Bench to Bassinet Program (B2B/CVDC), mutation 1291, subline 1 Cecilia Lo
• MGI ID: MGI:5437086
• Gene: Tmem67 Location: Chr4:12039355-12090020 bp, - strand Genetic Position: Chr4, 5.56 cM
• Alliance: Tmem67^b2b1291.1Clo page

Mutant 1291-006-LA exhibits heterotaxy with levocardia and dextrogastria

Show the 5 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: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1291Clo. The molecular lesion is a T to A substitution at coding nucleotide 1120 in exon 11 of the cDNA (c.1120T>A, NM_177861). This changes the tyrosine residue to asparagine at position 374 of the encoded protein (p.Y374N). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tmem67 Mutation: 65 strains or lines available

Notes

This mutation was derived from the parent line b2b1291Clo.

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Heterotaxy with levocardia and dextrogastria
Noncardiovascular phenotype: Polycystic kidney disease

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 Code ID	Code Description
0102	Levocardia
0190	Heterotaxy Syndrome
4508	Polycystic kidney disease

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: 3 reference(s)