Bmpr2^tm1Kmi
Targeted Allele Detail

Summary

• Symbol: Bmpr2^tm1Kmi
• Name: bone morphogenetic protein receptor type 2; targeted mutation 1, Kohei Miyazono
• MGI ID: MGI:2158503
• Gene: Bmpr2 Location: Chr1:59802721-59917240 bp, + strand Genetic Position: Chr1, 30.44 cM, cytoband C2
• Alliance: Bmpr2^tm1Kmi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:61931
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin selection cassette replaced a genomic fragment containing exons 4 and 5. These sequences encode the transmembrane domain and the amino terminal region of the kinase domain. (J:61931)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Bmpr2^tm1Kmi/Bmpr2^tm1Kmi	involves: 129S4/SvJae * C57BL/6J
ht2	Bmpr2^tm1Kmi/Bmpr2^+	involves: 129S4/SvJae
ht3	Bmpr2^tm1Kmi/Bmpr2^+	involves: 129S4/SvJae * C57BL/6
ht4  Disease Model	Bmpr2^tm1Kmi/Bmpr2^+	involves: 129S4/SvJae * C57BL/6J
cn5	Bmpr2^tm1.1Enl/Bmpr2^tm1Kmi Tg(KRT14-cre)1Ipc/0	involves: 129S4/SvJae * C57BL/6 * SJL
cx6	Bmpr2^tm1Kmi/Bmpr2^+ Btg2^tm1Spo/Btg2^tm1Spo	involves: 129S4/SvJae * C57BL/6
cx7	Bmpr2^tm1Kmi/Bmpr2^+ Ark2c^Gt(P9-3F)Sor/Ark2c^+ Tg(Hlxb9-GFP)1Tmj/0	involves: 129S4/SvJae * C57BL/6 * CBA

Phenotypes:

Affected Systems	hm1	ht2	ht3	ht4	cn5	cx6	cx7
show or hide all annotated terms
behavior/neurological							√
decreased grip strength							√
cardiovascular system			√	√
abnormal pulmonary artery morphology			√
abnormal lung vasculature morphology			√	√
increased pulmonary vascular resistance			√
increased pulmonary artery pressure			√
pulmonary hypertension			√	√
increased vasoconstriction				√
embryo	√
failure to gastrulate	√
abnormal rostral-caudal axis patterning	√
embryonic growth arrest	√
embryonic growth retardation	√
abnormal embryonic epiblast morphology	√
decreased egg cylinder size	√
absent mesoderm	√
failure of primitive streak formation	√
disorganized embryonic tissue	√
abnormal embryonic-extraembryonic boundary morphology	√
disorganized extraembryonic tissue	√
growth/size/body	√
embryonic growth retardation	√
hematopoietic system				√
abnormal leukocyte physiology				√
immune system				√
abnormal leukocyte physiology				√
mortality/aging	√			√			√
perinatal lethality, incomplete penetrance				√
embryonic lethality during organogenesis, complete penetrance	√
prenatal lethality, incomplete penetrance				√			√
muscle				√
increased vasoconstriction				√
nervous system							√
abnormal motor neuron innervation pattern							√
respiratory system			√	√
abnormal lung vasculature morphology			√	√
abnormal pulmonary alveolus morphology			√
skeleton		√				√
abnormal sternocostal joint morphology		√
vertebral transformation		√				√
normal phenotype					√
no abnormal phenotype detected					√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht4
primary pulmonary hypertension IDs primary pulmonary hypertension       DOID:14557 ICD10CM:I27.0 ICD9CM:416.0 OMIM:178600 OMIM:265400 OMIM:615342 OMIM:615343 OMIM:615344 ORDO:422 UMLS_CUI:C0152171 Close	√

Expression

In Structures Affected by this Mutation:

9 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:61931 Beppu H, et al., BMP type II receptor is required for gastrulation and early development of mouse embryos. Dev Biol. 2000 May 1;221(1):249-58
• All: 15 reference(s)