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Gene: Chrnb1 MGI:87890

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
cholinergic receptor nicotinic beta 1 subunit
Synonyms:
Acrb,  AChR beta,  Achr-2

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 respiratory muscles, Fatigable weakness of neck muscles, Facial palsy, Decr... ORPHA:98913
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Fatigable weakness, 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, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:254210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Facial palsy, Favor... ORPHA:353327
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Facial palsy, Decr... ORPHA:98913
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... ORPHA:98915
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Fati... ORPHA:1320
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Fatigable weakness, 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Chrnb1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Chrnb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Chrnb1tm47456(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Chrnb1em1(IMPC)Bay Exon Deletion Mice

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