|Institutional Source||Beutler Lab|
|Gene Name||lamin A|
|Synonyms||Dhe, lamin A/C|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R9666 (G1)|
|Chromosomal Location||88480147-88509956 bp(-) (GRCm38)|
|Type of Mutation||frame shift|
|DNA Base Change (assembly)||CAGCACGGTGCGTGAGC to CAGC at 88482550 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000029699 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029699] [ENSMUST00000036252] [ENSMUST00000120377]|
|PDB Structure||Solution structure of immunoglobulin like domain of mouse nuclear lamin [SOLUTION NMR]|
|Coding Region Coverage||
FUNCTION: This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for targeted mutations exhibit retarded postnatal growth, muscular dystrophy, reduced fat stores, micrognathy, abnormal dentition, impaired gonadal development, malformed scapulae, hyperkeratosis, and die by 8 weeks of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lmna||
(F):5'- AGAGATGACTCACCTGGCTC -3'
(R):5'- ACAGACAGAGGTCACCTTCCTG -3'
(F):5'- TTGCCCAGGAGGTAGGAGC -3'
(R):5'- AGGTCACCTTCCTGCCCAATG -3'