Lmbr1
Gene Detail

Symbol Name ID

Lmbr1 limb region 1 MGI:1861746

Synonyms

1110048D14Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 5

14.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)

Sequence Map

Chr5:29229814-29378390 bp, - strand From Ensembl annotation of GRCm38   148577 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Lmbr1 ± 2 cM)

Gene Tree: Lmbr1

Human ortholog

LMBR1 limb region 1 homolog (mouse) NCBI Gene ID 64327
Human Synonyms: ACHP, C7orf2, DIF14, PPD2, TPT
Human Chr7:156473570-156685902 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human LMBR1 (3)

Alleles and phenotypes

All alleles(11) : Targeted(2) Gene trapped(9)
 

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.

 
Human Diseases Modeled Using Mouse Lmbr1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (4 annotations)

Process	embryonic digit morphogenesis, embryonic hindlimb morphogenesis
Component	integral to membrane, membrane

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (75)    Tissues (46)   
Theiler Stages: 28

Assay Type	Results
In situ reporter (knock in)	37
RT-PCR	38

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(10) Genomic(1) cDNA(8) Primer pair(1)
Microarray probesets(9)

Other database links

Ensembl Gene Model	ENSMUSG00000010721 (Evidence)
Entrez Gene	56873 (Evidence)
DFCI	TC1586550, TC1593430, TC1613552, TC1617713, TC1629507, TC1653839
DoTS	DT.40167347, DT.87039570, DT.91330388, DT.91339819, DT.94243454
NIA Mouse Gene Index	U026035
Consensus CDS Project	CCDS19148.1
International Mouse Knockout Project Status	Lmbr1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000010721	Ensembl Gene Model | MGI Sequence Detail	148577	C57BL/6J
transcript	ENSMUST00000055195	Ensembl | MGI Sequence Detail	4920	Not Applicable
polypeptide	ENSMUSP00000058405	Ensembl | MGI Sequence Detail	490	Not Applicable

All sequences(38) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(535 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008075	Lipocalin-1 receptor
InterPro	IPR006876	LMBR1-like membrane protein
Protein Ontology	PR:000009854	limb region 1 protein

References

(Earliest) J:63394 Clark RM, et al., A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. Genomics. 2000 Jul 1;67(1):19-27
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(34)

Other accession IDs

MGI:1924158, MGI:3034300