Primary Identifier | MGI:96795 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 16906 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phospholipase binding activity and sequence-specific double-stranded DNA binding activity. A structural constituent of nuclear lamina. Predicted to be involved in several processes, including cellular response to L-glutamate; nucleus organization; and protein localization to nuclear envelope. Located in nuclear inner membrane and nuclear lumen. Is active in nuclear lamina. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and musculoskeletal system. Used to study adult-onset autosomal dominant demyelinating leukodystrophy. Human ortholog(s) of this gene implicated in adult-onset autosomal dominant demyelinating leukodystrophy and primary autosomal recessive microcephaly. Orthologous to human LMNB1 (lamin B1). PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory distress, abnormal lung, craniofacial, and skeletal morphology, reduced embryo size, impaired cellular proliferation and differentiation, and abnormal nuclear morphology. [provided by MGI curators] |