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Chemically induced Allele Detail
Symbol: Myh10b2b2437Clo
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
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.

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. 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, Myh10b2b2437Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 8 anatomical structures
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:  71 strains or lines available
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

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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory