Bmpr2^tm1Kml
Targeted Allele Detail

Summary

• Symbol: Bmpr2^tm1Kml
• Name: bone morphogenetic protein receptor type 2; targeted mutation 1, Karen M Lyons
• MGI ID: MGI:2445437
• Synonyms: Bmpr2^deltaE2, Bmpr2^{deltaE2tm1KML}, Bmpr2^deltaEx2
• Gene: Bmpr2 Location: Chr1:59802721-59917240 bp, + strand Genetic Position: Chr1, 30.44 cM, cytoband C2
• Alliance: Bmpr2^tm1Kml 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 details: A 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)

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: 46 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)