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Protein Coding Gene : Pkd1l1 polycystic kidney disease 1 like 1
Primary Identifier  MGI:2156538 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  171395
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable calcium channel activity. Involved in detection of nodal flow and left/right axis specification. Acts upstream of or within determination of left/right symmetry and heart development. Located in cilium. Is expressed in cochlea; node; and notochord. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting).
PHENOTYPE: Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. [provided by MGI curators]
  • synonyms:
  • Pkd1l1,
  • AA444596,
  • MGI:3035347,
  • expressed sequence AA444596,
  • polycystic kidney disease 1 like 1
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