Myh10<b2b2437Clo> Chemically induced Allele Detail MGI Mouse (MGI:5552947)

Myh10^b2b2437Clo
Chemically induced Allele Detail

Summary

Symbol:	Myh10^b2b2437Clo
Name:	myosin, heavy polypeptide 10, non-muscle; Bench to Bassinet Program (B2B/CVDC), mutation 2437 Cecilia Lo
MGI ID:	MGI:5552947
Synonyms:	Moe
Gene:	Myh10 Location: Chr11:68582385-68707458 bp, + strand Genetic Position: Chr11, 41.95 cM, cytoband B3
Alliance:	Myh10^b2b2437Clo page

Mutant 2437-005-3 (E16.5) exhibits parallel outflow tracts and is diagnosed with DORV and ventricular non-compaction by EFIC imaging

Show the 20 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. The molecular lesion is a T to C substitution at coding nucleotide 1054 in exon 10 of the cDNA (c.1054T>C, NM_175260). This changes the serine residue to proline at position 352 of the encoded protein (p.S352P). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Myh10^b2b2437Clo, and may be present in stocks carrying this mutation.

Phenotypes

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

Expression

In Structures Affected by this Mutation:

7 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 Myh10 Mutation:	95 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Overriding aorta/double outlet right ventricle (DORV) with ventricular septal defect (VSD) and atrioventricular septal defect (AVSD), ventricular myocardial non-compaction
Noncardiovascular Phenotype: Exencephaly, cleft lip/facial cleft, and micrognathia

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
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1432	Overriding aortic valve
1802	Excessive myocardial trabeculation or noncompaction
4134	Skull anomaly, congenital
4163	Micrognathia
4875	Cleft lip
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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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