Primary Identifier | MGI:3781032 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 100040591 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable inward rectifier potassium channel activity. Predicted to be involved in potassium ion import across plasma membrane and regulation of monoatomic ion transmembrane transport. Predicted to be part of monoatomic ion channel complex. Predicted to be active in plasma membrane. Is expressed in brain; male reproductive gland or organ; metanephros; and respiratory system. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 16 and snowflake vitreoretinal degeneration. Orthologous to human KCNJ13 (potassium inwardly rectifying channel subfamily J member 13). PHENOTYPE: Homozygous mutant null mice die shortly after birth, exhibit cleft palate and pulmonary abnormalities in embryonic lungs. [provided by MGI curators] |