Primary Identifier | MGI:98342 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 20638 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables histone pre-mRNA DCP binding activity. Predicted to be involved in spliceosomal snRNP assembly. Predicted to act upstream of or within protein methylation. Located in cytoplasm and nucleus. Part of histone pre-mRNA 3'end processing complex. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb; and sensory organ. Used to study cerebrocostomandibular syndrome. Human ortholog(s) of this gene implicated in cerebrocostomandibular syndrome and mixed connective tissue disease. Orthologous to human SNRPB (small nuclear ribonucleoprotein polypeptides B and B1). PHENOTYPE: Mice heterozygous for loss of expression in all cells die before birth. Mice heterozygous for loss of expression in neural crest cells die perinatally with extensive craniofacial and nervous system defects. [provided by MGI curators] |