Bmpr2^tm1Mmue
Targeted Allele Detail

Summary

• Symbol: Bmpr2^tm1Mmue
• Name: bone morphogenetic protein receptor type 2; targeted mutation 1, Matthias Mueller
• MGI ID: MGI:5776726
• Synonyms: Bmpr2^R899X
• Gene: Bmpr2 Location: Chr1:59802721-59917240 bp, + strand Genetic Position: Chr1, 30.44 cM, cytoband C2
• Alliance: Bmpr2^tm1Mmue page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:224752
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S1/SvImJ

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 12 was replaced with a modified exon containing the substitution of the arginine codon at position 899 with a termination codon (p.R899*). A loxP site flanked neomycin resistance gene cassette was inserted into intron 12. This mutation is associated with pulmonary arterial hypertension in humans. (J:224752)

Disease models

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:224752 Long L, et al., Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension. Nat Med. 2015 Jul;21(7):777-85
• All: 2 reference(s)