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Bmpr2tm1Mmue
Targeted Allele Detail
Nomenclature
Symbol: Bmpr2tm1Mmue
Name: bone morphogenetic protein receptor, type II (serine/threonine kinase); targeted mutation 1, Matthias Mueller
MGI ID: MGI:5776726
Synonyms: Bmpr2R899X
Gene: Bmpr2  Location: Chr1:59764270-59878081 bp, + strand  Genetic Position: Chr1, 30.44 cM, cytoband C2
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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
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:  3 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:  1 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
04/16/2019
MGI 6.13
The Jackson Laboratory