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Protein Coding Gene : Lmbr1 limb region 1

Primary Identifier  MGI:1861746 Organism  mouse, laboratory
Chromosome  5 NCBI Gene Number  56873
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable transmembrane signaling receptor activity. Acts upstream of or within embryonic digit morphogenesis. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and limb bud. Used to study acheiropody. Human ortholog(s) of this gene implicated in Laurin-Sandrow syndrome; acheiropody; and syndactyly type 4. Orthologous to human LMBR1 (limb development membrane protein 1).
PHENOTYPE: Mice homozygous for a null allele show minor coalitions of distal wrist bones and a low incidence of limb defects, including oligodactyly, brachyphalangia, and soft tissue or bony syndactyly. Homozygotes for another null allele exhibit normal morphology,clinical chemistry, hematology and behavior. [provided by MGI curators]
  • synonyms:
  • limb region 1,
  • expressed sequence AU017641,
  • Lmbr1,
  • RIKEN cDNA 1110048D14 gene,
  • C79130,
  • 1110048D14Rik,
  • AU017641,
  • MGI:1924158,
  • expressed sequence C79130,
  • MGI:3034300,
  • MGI:2141307

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17 Involved In Mutations

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