| Primary Identifier | MGI:97492 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 18510 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables transcription cis-regulatory region binding activity. Involved in several processes, including kidney development; negative regulation of apoptotic process; and regulation of epithelial cell differentiation involved in kidney development. Acts upstream of or within epithelial cell differentiation; metanephros development; and thyroid gland development. Located in nucleus. Is expressed in several structures, including central nervous system; embryo ectoderm; genitourinary system; gut; and sensory organ. Used to study congenital hypothyroidism. Human ortholog(s) of this gene implicated in congenital hypothyroidism and congenital nongoitrous hypothyroidism 2. Orthologous to human PAX8 (paired box 8). PHENOTYPE: Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. [provided by MGI curators] |
Features --> Cross References
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
