Lamin B2

LMNB2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLMNB2, lamin B2, LAMB2, LMN2, EPM9
External IDsMGI: 96796 HomoloGene: 7818 GeneCards: LMNB2
Gene location (Human)
Chr.Chromosome 19 (human)[1]
BandNo data availableStart2,427,638 bp[1]
End2,456,996 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

84823

16907

Ensembl

ENSG00000176619

ENSMUSG00000062075

UniProt

Q03252

P21619

RefSeq (mRNA)

NM_032737

NM_010722
NM_001347140

RefSeq (protein)

NP_116126

NP_001334069
NP_034852

Location (UCSC)Chr 19: 2.43 – 2.46 MbChr 19: 80.9 – 80.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Model organisms have been used in the study of Lamin B2 function. A conditional knockout mouse line, called Lmnb2tm1a(KOMP)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty four tests were carried out on mutant mice and four significant abnormalities were observed.[8] 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.[8]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000176619 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000062075 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Clinical chemistry data for Lmnb2". Wellcome Trust Sanger Institute.
  6. ↑ "Salmonella infection data for Lmnb2". Wellcome Trust Sanger Institute.
  7. ↑ "Citrobacter infection data for Lmnb2". Wellcome Trust Sanger Institute.
  8. 1 2 3 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.
  9. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ↑ "International Knockout Mouse Consortium".
  11. ↑ "Mouse Genome Informatics".
  12. ↑ 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. PMC 3572410 Freely accessible. PMID 21677750. doi:10.1038/nature10163.
  13. ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. PMID 21677718. doi:10.1038/474262a.
  14. ↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. PMID 17218247. doi:10.1016/j.cell.2006.12.018.
  15. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol. 12 (6): 224. PMC 3218837 Freely accessible. PMID 21722353. doi:10.1186/gb-2011-12-6-224.


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