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Protein Coding Gene : 2700049A03Rik RIKEN cDNA 2700049A03 gene

Primary Identifier  MGI:1924217 Organism  Mus musculus
Chromosome  12 NCBI Gene Number  76967
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 3.2)

Involved in cilium assembly and smoothened signaling pathway. Localizes to centrosome. Is expressed in embryo. Human ortholog(s) of this gene implicated in Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly. Orthologous to human KIAA0586 (KIAA0586).
PHENOTYPE: Mice homozygous for a null allele die during organogenesis, lack cilia, and show randomized L-R patterning, face and neural tube defects, pericardial edema and hemorrhages. Mouse embryonic fibroblasts homozygous for a different null allele lack cilia and asymmetrical centriolar localization. [provided by MGI curators]
  • synonyms:
  • 2700049A03Rik,
  • RIKEN cDNA 2700049A03 gene,
  • Ta3,
  • talpid3

Features --> Cross References


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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features


Gene --> Proteins


Mouse features --> Functions (GO terms)


Genes --> Homologs


0 Pathways

96 Targeted By

Gene --> Protein-Protein Interactions


Gene --> Expression annotations


Genes/Features --> Phenotypes (MP terms)

Mouse features --> Alleles


Mouse features --> Human diseases


Mouse features --> Publications