Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
Synonyms:
Achr-2,  Acrb,  AChR beta

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Chrnb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chrnb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Decreased miniature endplate potentials, Facial palsy, Fatiga... ORPHA:98913
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy OMIM:616313
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
OMIM:616314

The table below shows human diseases predicted to be associated to Chrnb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:254210
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:605809
Congenital Myasthenic Syndromes With Glycosylation Defect
Favorable response of weakness to acetylcholine esterase inhibitors, Facial palsy, Fatigable weak... ORPHA:353327
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials, Facial palsy OMIM:608930
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Decreased miniature endplate potentials, Facial palsy, Fatiga... ORPHA:98913
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Synaptic Congenital Myasthenic Syndromes
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Prolonged miniature... ORPHA:98915
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy OMIM:616313
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
OMIM:616314

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chrnb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chrnb1.

No publications found that use IMPC mice or data for Chrnb1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Chrnb1tm47456(L1L2_Bact_P) Targeting vectors
Chrnb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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