Lamin B2

LMNB2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LLL, 5BNW
Identifiers
Aliases	LMNB2, lamin B2, LAMB2, LMN2, EPM9, MCPH27
External IDs	OMIM: 150341 MGI: 96796 HomoloGene: 7818 GeneCards: LMNB2
Gene location (Human)
Chr.	Chromosome 19 (human)
End	2,456,959 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	80,754,079 bp
RNA expression pattern
	Top expressed in
	testicle; ; stomach; ; embryo; ; cerebellum;
	More reference expression data
	n/a
Gene ontology
Molecular function	structural molecule activity; GO:0001948 protein binding; molecular function;
Cellular component	intermediate filament; nucleus; membrane; nuclear inner membrane; lamin filament; nuclear envelope; nuclear membrane;
Biological process	biological process;
	Sources:Amigo / QuickGO
Orthologs
	84823
	16907
	ENSG00000176619
	ENSMUSG00000062075
	Q03252
	P21619
	NM_032737
	NM_010722; NM_001347140
	NP_116126
	NP_001334069; NP_034852
	Wikidata
View/Edit Human	View/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[]

*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^[5]
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Salmonella infection	Abnormal^[6]
Citrobacter infection	Normal^[7]
All tests and analysis from^[8]^[9]

Model organisms have been used in the study of Lamin B2 function. A conditional knockout mouse line, called Lmnb2^{tm1a(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]

External links[]

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

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000176619 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000062075 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Clinical chemistry data for Lmnb2". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Lmnb2". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Lmnb2". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d 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. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ 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.
^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ 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. S2CID 18872015.
^ 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000176619 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000062075 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Clinical_chemistry-5] "Clinical chemistry data for Lmnb2". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-6] "Salmonella infection data for Lmnb2". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-7] "Citrobacter infection data for Lmnb2". Wellcome Trust Sanger Institute.

[mgp_reference-8] 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. S2CID 85911512.

[9] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-10] "International Knockout Mouse Consortium".

[mgi_allele_ref-11] "Mouse Genome Informatics".

[pmid21677750-12] 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. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.

[mouse_library-13] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-14] 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. S2CID 18872015.

[pmid21722353-15] van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

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Lamin B2

Contents

Model organisms[]

See also[]

External links[]

References[]