About   Help   FAQ
Bmpr2tm1Kml
Targeted Allele Detail
Summary
Symbol: Bmpr2tm1Kml
Name: bone morphogenetic protein receptor type 2; targeted mutation 1, Karen M Lyons
MGI ID: MGI:2445437
Synonyms: Bmpr2deltaE2, Bmpr2deltaE2tm1KML, Bmpr2deltaEx2
Gene: Bmpr2  Location: Chr1:59802721-59917240 bp, + strand  Genetic Position: Chr1, 30.44 cM, cytoband C2
Alliance: Bmpr2tm1Kml page
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
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 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:  45 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:  5 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory