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Allele : Bmpr2<tm1Mmue> bone morphogenetic protein receptor type 2; targeted mutation 1, Matthias Mueller

Primary Identifier  MGI:5776726 Allele Type  Targeted
Attribute String  Not Specified Gene  Bmpr2
Transmission  Germline Strain of Origin  129S1/SvImJ
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Bmpr2<R899X>,
  • Bmpr2<R899X>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

5 Publication categories