Bmpr2b2b2556Clo
Chemically induced Allele Detail
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Symbol: |
Bmpr2b2b2556Clo |
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
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Alliance: |
Bmpr2b2b2556Clo page
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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.
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Strain of Origin: |
C57BL/6J
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Project Collection: |
B2B/CvDC
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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Single point mutation
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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,
Bmpr2b2b2556Clo, and may be present in stocks carrying this mutation.
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Bmpr2 Mutation: |
46 strains or lines available
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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
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