Bmp10<b2b2711Clo> Chemically induced Allele Detail MGI Mouse (MGI:5616117)

Bmp10^b2b2711Clo
Chemically induced Allele Detail

Summary

Symbol:	Bmp10^b2b2711Clo
Name:	bone morphogenetic protein 10; Bench to Bassinet Program (B2B/CVDC), mutation 2711 Cecilia Lo
MGI ID:	MGI:5616117
Gene:	Bmp10 Location: Chr6:87405976-87411494 bp, + strand Genetic Position: Chr6, 37.96 cM, cytoband D2
Alliance:	Bmp10^b2b2711Clo page

Mutant (E16.5) exhibits a hypoplastic thymus.

Show the 10 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:		Undefined
		Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 328 in exon 1 of the cDNA (c.328A>G, NM_009756). This changes the asparagine residue to aspartic acid at position 110 of the encoded protein (p.N110D). (J:175213)

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: 0 strains available Cell Lines: 0 lines available
Carrying any Bmp10 Mutation:	23 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) - Tetralogy of Fallot type DORV, subaortic ventricular septal defect (VSD), and hypoplastic pulmonary artery.

Noncardiovascular phenotype: Petechiae, hypoplastic thymus, curly tail, and cystic kidneys with tubule dilations.

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 Codes	Code Description
1050	Tetralogy of Fallot
2966	Hypoplastic Main Pulmonary Artery
4508	Polycystic kidney disease
4906	Non-cardiac abnormality
600	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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