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Allele : Tmem67<b2b1163.1Clo> transmembrane protein 67; Bench to Bassinet Program (B2B/CVDC), subline 1163.1 Cecilia Lo
Primary Identifier  MGI:5433409 Allele Type  Chemically induced (ENU)
Gene  Tmem67 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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.
  • mutations:
  • Single point mutation
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Trail: Allele

Genome

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0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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