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Bmpr2tm1Kml
Targeted Allele Detail
Nomenclature
Symbol: Bmpr2tm1Kml
Name: bone morphogenetic protein receptor, type II (serine/threonine kinase); targeted mutation 1, Karen M Lyons
MGI ID: MGI:2445437
Synonyms: Bmpr2deltaE2, Bmpr2deltaE2tm1KML, Bmpr2deltaEx2
Gene: Bmpr2  Location: Chr1:59763400-59879014 bp, + strand  Genetic Position: Chr1, 30.44 cM, cytoband C2
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:80024
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 2.2 kb region of the gene containing exon 2 was deleted and replaced with a PGK-neo cassette via homologous recombination resulting in deletion of half of the extracellular ligand-binding domain. The targeted mutation removes 3 of 7 conserved cysteine residues required to maintain the conformation of the extracellular domain, as well as 2 of 5 hydrophobic domains. RT-PCR analysis of RNA from homozygous mutant animals confirmed the presence of stable mutant transcript. Sequence analysis of the RT-PCR products confirmed that exon 2 was deleted and that exons 1 and 3 were in-frame. (J:80024)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
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:  20 strains or lines available
References
Original:  J:80024 Delot EC, et al., BMP signaling is required for septation of the outflow tract of the mammalian heart. Development. 2003 Jan;130(1):209-20
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory