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Chemically induced Allele Detail
Symbol: Tmem67b2b1291.1Clo
Name: transmembrane protein 67; Bench to Bassinet Program (B2B/CVDC), mutation 1291, subline 1 Cecilia Lo
MGI ID: MGI:5437086
Gene: Tmem67  Location: Chr4:12039363-12090020 bp, - strand  Genetic Position: Chr4, 5.56 cM
Mutant 1291-006-LA exhibits heterotaxy with levocardia and dextrogastria

Show the 5 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis 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 single point mutation at position 1120 of the cDNA (c.T1120A, NM_177861) that is predicted to cause a tyrosine to asparagine amino acid substitution at position 374 of the encoded protein (p.Y374N). (J:175213)
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Disease models
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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:  8 strains or lines available
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

Phenotypic Similarity to Human Syndrome: Mutant Type 1: Heterotaxy, 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

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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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The Jackson Laboratory