Symbol
Name
ID

Bmpr1b
bone morphogenetic protein receptor, type 1B
MGI:107191

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Short distal phalanx of the 2nd finger

Aplasia/Hypoplasia of the middle phalanx of the 2nd finger

Triangular shaped middle phalanx of the 2nd finger

Aplasia of the proximal phalanx of the 2nd finger

Short 2nd finger

Radial deviation of the 2nd finger

Ulnar deviation of the 2nd finger

Aplasia/Hypoplasia of the middle phalanx of the 5th finger

Short middle phalanx of the 5th finger

Triangular shaped middle phalanx of the 5th finger

Clinodactyly of the 5th finger

Short distal phalanx of the thumb

Short middle phalanx of finger

Short proximal phalanx of thumb

Short proximal phalanx of finger

Short 1st metacarpal

Short phalanx of finger

Short finger

Radial deviation of finger

Short hallux

Broad hallux

Hallux valgus

Medially deviated second toe

Short toe

2-3 toe syndactyly

Brachydactyly

Type A2 brachydactyly

Short femoral neck

Fibular aplasia

Tarsal synostosis

Short foot

Widened proximal tibial metaphyses

Hypoplasia of the ulna

Short 2nd metacarpal

Abnormal foot morphology

Broad foot

Talipes equinovarus

Bilateral talipes equinovarus

Carpal synostosis

Limb undergrowth

Disease(s) Associated with BMPR1B

acromesomelic dysplasia-3

brachydactyly type A1D

brachydactyly type A2

Mouse Phenotypes

abnormal autopod morphology

abnormal carpal bone morphology

abnormal digit morphology

abnormal phalanx morphology

brachyphalangia

fused phalanges

brachydactyly

abnormal calcaneum morphology

elbow dislocation

abnormal limb bone morphology

abnormal metacarpal bone morphology

short metacarpal bones

abnormal metatarsal bone morphology

fused metatarsal bones

short metatarsal bones

abnormal digit development

Availability

Mouse Genotype

Bmpr1b^em1(IMPC)Mbp/Bmpr1b^em1(IMPC)Mbp

Bmpr1b^{Tg(ACTB-FLP)4917Dym}/Bmpr1b^{Tg(ACTB-FLP)4917Dym}

Bmpr1b^tm1Kml/Bmpr1b^tm1Kml

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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