Bmpr2^tm1.2Nwm
Targeted Allele Detail

Summary

• Symbol: Bmpr2^tm1.2Nwm
• Name: bone morphogenetic protein receptor type 2; targeted mutation 1.2, Nicholas W Morrell
• MGI ID: MGI:8255475
• Synonyms: Bmpr2^C118W
• Gene: Bmpr2 Location: Chr1:59802721-59917240 bp, + strand Genetic Position: Chr1, 30.44 cM, cytoband C2
• Alliance: Bmpr2^tm1.2Nwm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:367200
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: A lox511 site was inserted into intron 2 and a loxP site, a mutated copy of exon 3 in reverse orientation, a second lox511 site, an FRT site flanked neomycin resistance gene cassette and a second loxP site were inserted into intron 3. The neo cassette was removed through subsequent Flp-mediated recombination. Cre-mediated recombination inverted both copies of exon 3, so, this allele expresses the mutated exon. The mutation entails changing cysteine codon 118 (TGT) to tryptophan (TGG) (p.C118W) and mimics the same mutation found in some patients presenting with pulmonary arterial hypertension (PAH). (J:367200)

Expression

In Structures Affected by this Mutation:

1 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:367200 Dunmore BJ, et al., 4PBA Restores Signaling of a Cysteine-substituted Mutant BMPR2 Receptor Found in Patients with Pulmonary Arterial Hypertension. Am J Respir Cell Mol Biol. 2020 Aug;63(2):160-171
• All: 1 reference(s)