| Primary Identifier | MGI:1861438 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 107889 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within glandular epithelial cell differentiation; negative regulation of epithelial cell apoptotic process; and parathyroid gland development. Located in nucleus. Is expressed in several structures, including branchial pouch; central nervous system; foregut gland primordium; genitourinary system; and gut gland. Used to study hypoparathyroidism. Human ortholog(s) of this gene implicated in familial isolated hypoparathyroidism and hyperparathyroidism. Orthologous to human GCM2 (glial cells missing transcription factor 2). PHENOTYPE: Homozygous null mice lack parathyroid glands and exhibit hypocalcemia, hypophosphatemia, a mild abnormal bone phenotype, and partial perinatal lethality. Hypoparathyroidism is observed although parathyroid hormone serum levels are normal. [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
