Lamin B2

Lamin B2
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2LLL​
Identifiers
Symbols	LMNB2 ; LAMB2; LMN2
External IDs	OMIM: 150341 HomoloGene: 7818 GeneCards: LMNB2 Gene
Gene ontology Molecular function • molecular_function • structural molecule activity Cellular component • nuclear inner membrane • lamin filament Biological process • biological_process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	84823	16907
Ensembl	ENSG00000176619	ENSMUSG00000062075
UniProt	Q03252	P21619
RefSeq (mRNA)	NM_032737	NM_010722
RefSeq (protein)	NP_116126	NP_034852
Location (UCSC)	Chr 19: 2.43 – 2.46 Mb	Chr 10: 80.9 – 80.92 Mb
PubMed search

Lamin B2 is a protein that in humans is encoded by the LMNB2 gene. It is the second of two type B nuclear lamins, and it is associated with laminopathies.

Model organisms

Lmnb2 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal[1]
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Salmonella infection	Abnormal[2]
Citrobacter infection	Normal[3]
All tests and analysis from[4][5]

Model organisms have been used in the study of Lamin B2 function. A conditional knockout mouse line, called Lmnb2^{tm1a(KOMP)Wtsi[6][7]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[8][9][10]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[4][11] Twenty four tests were carried out on mutant mice and four significant abnormalities were observed.^[4] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice. Male heterozygotes displayed increased circulating creatinine levels and an increased susceptibility to Salmonella infection.^[4]

See also

• Lamin B receptor
• Barraquer-Simons disease
• Pelger-Huet anomaly

External links

• Lamin B at the US National Library of Medicine Medical Subject Headings (MeSH)

References

1. "Clinical chemistry data for Lmnb2". Wellcome Trust Sanger Institute.
2. "Salmonella infection data for Lmnb2". Wellcome Trust Sanger Institute.
3. "Citrobacter infection data for Lmnb2". Wellcome Trust Sanger Institute.
4. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
5. Mouse Resources Portal, Wellcome Trust Sanger Institute.
6. "International Knockout Mouse Consortium".
7. "Mouse Genome Informatics".
8. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
9. Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
10. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
11. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.