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Bmpr1a Gene Detail
Summary
  • Symbol
    Bmpr1a
  • Name
    bone morphogenetic protein receptor, type 1A
  • Synonyms
    1110037I22Rik, ALK3, Bmpr, BMPR-IA
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338938
    NCBI Gene: 12166
  • Gene Overview
    MyGene.info: BMPR1A
Location & Maps
more
  • Sequence Map
    Chr14:34410734-34503341 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      92608 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 20.81 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    BMPR1A, bone morphogenetic protein receptor type 1A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    BMPR1A, bone morphogenetic protein receptor type 1A
    Orthology source: HomoloGene
  • Synonyms
    10q23del, ACVRLK3, ALK3, CD292, SKR5
  • Links
    NCBI Gene ID: 657
    neXtProt AC: NX_P36894

  • Chr Location
    10q22.3; chr10:86755786-86925188 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    5 with Bmpr1a mouse models; 2 with human BMPR1A associations

Human Disease Mouse Models
       Juvenile Polyposis Syndrome; JPS   OMIM: 174900 View 1 model
       Chromosome 10q22.3-Q23.2 Deletion Syndrome   OMIM: 612242 View 1 model
Ebstein Anomaly   OMIM: 224700 View 1 model
Osteoarthritis Susceptibility 1; OS1   OMIM: 165720 View 1 model
Wolff-Parkinson-White Syndrome   OMIM: 194200 View 1 model
       Polyposis Syndrome, Hereditary Mixed, 2; HMPS2   OMIM: 610069
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    132 phenotypes from 6 alleles in 21 genetic backgrounds
    38 phenotypes from multigenic genotypes
    6 images
    143 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    99
  • Gene trapped
    90
  • Targeted
    7
  • Transgenic
    2
  • Incidental Mutations
Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036087 VEGA Gene Model | MGI Sequence Detail 92608 C57BL/6J ±  kb
transcript OTTMUST00000092723 VEGA | MGI Sequence Detail 5956 Not Applicable  
polypeptide OTTMUSP00000051312 VEGA | MGI Sequence Detail 532 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    518 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 48
    Genomic 1
    cDNA 31
    Primer pair 14
    Other 2

    Microarray probesets 10
Other
Accession IDs
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MGD-MRK-1605, MGI:1915998, MGI:2145761, MGI:88183
References
more
  • Summaries
    All 273
    Developmental Gene Expression 103
    Diseases 3
    Gene Ontology 33
    Phenotypes 143
  • Earliest
    J:148755 Burgoyne PS, et al., XY follicle cells in ovaries of XX----XY female mouse chimaeras. Development. 1988 Dec;104(4):683-8
  • Latest
    J:231462 Kaltcheva MM, et al., BMPs are direct triggers of interdigital programmed cell death. Dev Biol. 2016 Mar 15;411(2):266-76

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory