| Primary Identifier | MGI:1309489 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 12361 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables neurexin family protein binding activity. Involved in regulation of synaptic vesicle exocytosis. Acts upstream of or within several processes, including calcium ion import; positive regulation of calcium ion import; and positive regulation of transcription by RNA polymerase II. Located in several cellular components, including basolateral plasma membrane; cell-cell junction; and cytosol. Is active in Schaffer collateral - CA1 synapse. Colocalizes with basement membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in FG syndrome and syndromic X-linked intellectual disability Najm type. Orthologous to human CASK (calcium/calmodulin dependent serine protein kinase). PHENOTYPE: Mutation of this gene results in cleft palate and perinatal lethality in hemizygous males and death within 2 weeks in females on a C57BL/6J background. Some female animals on a CD1 background survive to adulthood exhibiting patchy fur, wrinkled skin, a kinked tail and spine, and give birth to small and infrequent litters. Male and female animals on all genetic backgrounds exhibit reduced head size, shortened jaw, and a pointed snout. [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
