Lmnb1 MGI Mouse Gene Detail - MGI:96795

Symbol

Lmnb1
Name

lamin B1

Feature Type

protein coding gene
IDs

MGI:96795
NCBI Gene: 16906
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr18:56840885-56886496 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 30.84 cM
Mapping Data

15 experiments

SNPs within 2kb

1275 from dbSNP Build 142
Strain Annotations

18
PCR

1
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96795	protein coding gene	Chr18:56840885-56886496 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024444	protein coding gene	Chr18:56099013-56147357 (+)
A/J	MGP_AJ_G0024410	protein coding gene	Chr18:53874700-53921886 (+)
AKR/J	MGP_AKRJ_G0024380	protein coding gene	Chr18:55355833-55402705 (+)
BALB/cJ	MGP_BALBcJ_G0024410	protein coding gene	Chr18:54057784-54104178 (+)
C3H/HeJ	MGP_C3HHeJ_G0024177	protein coding gene	Chr18:55574607-55623573 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024856	protein coding gene	Chr18:57881097-57933321 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022288	protein coding gene	Chr18:53507379-53550059 (+)
CAST/EiJ	MGP_CASTEiJ_G0023651	protein coding gene	Chr18:55587992-55633901 (+)
CBA/J	MGP_CBAJ_G0024147	protein coding gene	Chr18:59692124-59744602 (+)
DBA/2J	MGP_DBA2J_G0024277	protein coding gene	Chr18:53571755-53618198 (+)
FVB/NJ	MGP_FVBNJ_G0024244	protein coding gene	Chr18:52962809-53010373 (+)
LP/J	MGP_LPJ_G0024362	protein coding gene	Chr18:56053442-56105204 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024274	protein coding gene	Chr18:61356179-61405280 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024903	protein coding gene	Chr18:55482637-55533697 (+)
PWK/PhJ	MGP_PWKPhJ_G0023395	protein coding gene	Chr18:53592868-53639080 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023201	protein coding gene	Chr18:55547581-55594554 (+)
WSB/EiJ	MGP_WSBEiJ_G0023714	protein coding gene	Chr18:55400397-55448257 (+)

Human Ortholog

LMNB1, lamin B1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LMNB1, lamin B1
Synonyms

ADLD, LMN, LMN2, LMNB, MCPH26
Links

HGNC:6637

NCBI Gene ID: 4001

neXtProt AC: NX_P20700

UniProt: P20700
Chr Location

5q23.2; chr5:126776623-126837020 (+) GRCh38

MGI Vertebrate Homology

Lmnb1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: LMNB1
Gene Tree

Lmnb1

Diseases

1 with Lmnb1 mouse models; 2 with human LMNB1 associations

Human Disease

Mouse Models

adult-onset autosomal dominant demyelinating leukodystrophy

IDs

View 1 model

primary autosomal recessive microcephaly

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

50 phenotypes from 7 alleles in 7 genetic backgrounds
18 phenotypes from multigenic genotypes
2 images
36 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

53
Endonuclease-mediated

2
Gene trapped

38
Spontaneous

1
Targeted

11
Transgenic

1
Genomic Mutations

1 involving Lmnb1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + 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.

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All GO Annotations

33
GO References

19

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

971
Tissues

100
cDNA Data

77
Literature Summary

62

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase lmnb1

ZFIN lmnb1

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All Sequences

39
RefSeq

2
UniProt

2
CCDS

CCDS29261.1

Ensembl

ENSMUSG00000024590 (Evidence)
NCBI Gene

16906

			Length	Strain/Species	Flank
genomic	16906	NCBI Gene Model \| MGI Sequence Detail	45612	C57BL/6J	± kb
transcript	NM_010721	RefSeq \| MGI Sequence Detail	2871	ZRU/MplStud
polypeptide	P14733	UniProt \| EBI \| MGI Sequence Detail	588	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000009860 lamin-B1

(term hierarchy)
InterPro Domains

IPR018039 Intermediate filament protein, conserved site

IPR039008 Intermediate filament, rod domain

IPR001322 Lamin tail domain

IPR036415 Lamin tail domain superfamily
GlyGen

P14733 4 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 83

cDNA 78

Primer pair 4

Other 1

Microarray probesets 5

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MGD-MRK-11819

Summaries

All 155

Developmental Gene Expression 62

Diseases 1

Gene Ontology 19

Phenotypes 36
Earliest

J:16564 McKeon FD, et al., Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature. 1986 Feb 6-12;319(6053):463-8
Latest

J:354455 Chen X, et al., SENP3-regulated Nodal signaling plays a potential role in cardiac left-right asymmetry development. Int J Biol Macromol. 2024 Aug;274(Pt 2):133294

TSS for Lmnb1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr151158	Chr18:56840797-56841012 (+)	20 bp
Tssr151159	Chr18:56841013-56841060 (+)	152 bp
Tssr151160	Chr18:56865743-56865748 (+)	24,861 bp
Tssr151161	Chr18:56866216-56866238 (+)	25,342 bp
Tssr151162	Chr18:56866253-56866258 (+)	25,371 bp
Tssr151163	Chr18:56866262-56866282 (+)	25,387 bp
Tssr151164	Chr18:56866283-56866299 (+)	25,406 bp
Tssr151165	Chr18:56866301-56866321 (+)	25,426 bp
Tssr151166	Chr18:56866826-56866831 (+)	25,944 bp
Tssr151167	Chr18:56867089-56867100 (+)	26,210 bp
Tssr151168	Chr18:56867140-56867154 (+)	26,262 bp
Tssr151169	Chr18:56867161-56867169 (+)	26,280 bp
Tssr151170	Chr18:56870716-56870764 (+)	29,855 bp
Tssr151171	Chr18:56879614-56879617 (+)	38,731 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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