Tmem67<b2b1163.1Clo> Chemically induced Allele Detail MGI Mouse (MGI:5433409)

Tmem67^b2b1163.1Clo
Chemically induced Allele Detail

Summary

Symbol:	Tmem67^b2b1163.1Clo
Name:	transmembrane protein 67; Bench to Bassinet Program (B2B/CVDC), subline 1163.1 Cecilia Lo
MGI ID:	MGI:5433409
Gene:	Tmem67 Location: Chr4:12039355-12090020 bp, - strand Genetic Position: Chr4, 5.56 cM
Alliance:	Tmem67^b2b1163.1Clo page

Mutant 1163-006-NA displays malpositioned heart with interrupted aorta and DORV (confirmed by EFIC imaging)

Show the 6 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 b2b1163Clo. The molecular lesion is a T to C substitution at nucleotide +6 after coding nucleotide 2322 (c.2322+6T>C, NM_177861) in intron 22. This may affect the nearby splice donor site.

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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: 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 b2b1163Clo.

Summative Diagnosis:
Cardiac defects: Congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with interrupted aortic arch, atrioventricular septal defect (AVSD), and hypoplastic right ventricle (RV)
Noncardiac defects: Highly cystic kidneys with tubule cysts

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
1100	Atrioventricular canal (endocardial cushion defect)
1821	Hypoplastic right ventricle (subnormal cavity volume)
0190	Heterotaxy Syndrome
3804	Congenital heart disease
3950	{S,D,D}
4508	Polycystic kidney disease
0600	Double outlet right ventricle

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)

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