Primary Identifier | MGI:99953 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 14616 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable gap junction channel activity and identical protein binding activity. Acts upstream of or within lens development in camera-type eye. Located in plasma membrane. Is expressed in several structures, including eye; testis; and thyroid gland. Used to study cataract 1 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 1 multiple types. Orthologous to human GJA8 (gap junction protein alpha 8). PHENOTYPE: Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background. [provided by MGI curators] |