| Primary Identifier | MGI:1918248 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 70998 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including histone deacetylase binding activity; phosphoprotein binding activity; and scaffold protein binding activity. Acts upstream of or within blastocyst hatching. Located in nucleus. Is expressed in several structures, including alimentary system; gonad; nervous system; sensory organ; and skin. Used to study Borjeson-Forssman-Lehmann syndrome. Human ortholog(s) of this gene implicated in Borjeson-Forssman-Lehmann syndrome; acute myeloid leukemia; and congestive heart failure. Orthologous to human PHF6 (PHD finger protein 6). PHENOTYPE: Mice hemi- or homozygous for a null allele die perinatally. Males hemizygous for a certain single point mutation show reduced body weight/length, cognitive and behavioral deficits, increased susceptibility to PTZ-induced seizures, and neuronal hyperexcitability. Conditional homo- or hemizygous KO in hematopoietic lineage affects B and T cell numbers and enhances hematopoietic stem cell proliferation. [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
