Bmpr2^b2b2556Clo
Chemically induced Allele Detail

Summary

• Symbol: Bmpr2^b2b2556Clo
• Name: bone morphogenetic protein receptor type 2; Bench to Bassinet Program (B2B/CVDC) mutation 2556, Cecilia Lo
• MGI ID: MGI:5560496
• Gene: Bmpr2 Location: Chr1:59802721-59917240 bp, + strand Genetic Position: Chr1, 30.44 cM, cytoband C2
• Alliance: Bmpr2^b2b2556Clo page

Mutant 2556-004-1 (E16.5) exhibits parallel outflow tracts and ventricles appear thin which is diagnosed as PTA (Type A4) and ventricular non-copmaction by EFIC imaging and the heart is malrotated further to the left

Show the 9 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 nucleotide +2 after coding nucleotide 852 (c.852+2T>C, NM_007561) in intron 6, changing splice donor site T-GT to T-GC (which is assumed to be less efficient). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Bmpr2^b2b2556Clo, and may be present in stocks carrying this mutation.

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Bmpr2^b2b2556Clo/Bmpr2^b2b2556Clo	C57BL/6J-Bmpr2^b2b2556Clo

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cardiovascular system	√
abnormal myocardium compact layer morphology	√
persistent truncus arteriosus type i	√
persistent truncus arteriosus type iv	√
atrioventricular septal defect	√
muscular ventricular septal defect	√
abnormal semilunar valve morphology	√
muscle	√
abnormal myocardium compact layer morphology	√
renal/urinary system	√
hydronephrosis	√

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

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 Bmpr2 Mutation: 46 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Persistent truncus arteriosus (PTA, Typa 1 and Type A4), atrioventricular septal defect (AVSD), muscular ventricular septal defect (VSD), ventricular non-compaction, absent semilunar valves
Noncardiovascular Phenotype: Hydronephrosis

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
0500	Truncus arteriosus
1100	Atrioventricular canal (endocardial cushion defect)
1802	Excessive myocardial trabeculation or noncompaction
4502	Hydronephrosis
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)