Primary Identifier | MGI:99781 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 20591 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables histone H3K4 demethylase activity. Involved in negative regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including brain; early conceptus; gonad; limb; and metanephros. Used to study syndromic X-linked intellectual disability Claes-Jensen type. Human ortholog(s) of this gene implicated in descending colon cancer and syndromic X-linked intellectual disability Claes-Jensen type. Orthologous to human KDM5C (lysine demethylase 5C). PHENOTYPE: Male chimeras hemizygous for a gene trapped allele exhibit posterior patterning defects and abnormal heart morphology at E9.5. Chimeras hemizygous for a different gene trapped allele appear normal at E10.5. [provided by MGI curators] |