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Mbnl3 Gene Detail
Summary
  • Symbol
    Mbnl3
  • Name
    muscleblind like splicing factor 3
  • Synonyms
    A530038J18Rik, CHCR, E430034C16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444912
    NCBI Gene: 171170
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:50206146-50295409 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 28.03 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1583 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444912
 protein coding gene ChrX:50202371-50295409 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035711
 protein coding gene ChrX:46281706-46378270 (-)
A/J MGP_AJ_G0035694
 protein coding gene ChrX:46147716-46243789 (-)
AKR/J MGP_AKRJ_G0035614
 protein coding gene ChrX:47417527-47517162 (-)
BALB/cJ MGP_BALBcJ_G0035680
 protein coding gene ChrX:45743734-45841940 (-)
C3H/HeJ MGP_C3HHeJ_G0035384
 protein coding gene ChrX:46550339-46641009 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036209
 protein coding gene ChrX:47387456-47479682 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033061
 protein coding gene ChrX:43706594-43796561 (-)
CAST/EiJ MGP_CASTEiJ_G0034675
 protein coding gene ChrX:34008259-34102523 (-)
CBA/J MGP_CBAJ_G0035358
 protein coding gene ChrX:48702132-48812082 (-)
DBA/2J MGP_DBA2J_G0035513
 protein coding gene ChrX:45975709-46067804 (-)
FVB/NJ MGP_FVBNJ_G0035461
 protein coding gene ChrX:45681682-45782126 (-)
LP/J MGP_LPJ_G0035600
 protein coding gene ChrX:46620105-46715609 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035500
 protein coding gene ChrX:50235609-50347044 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036227
 protein coding gene ChrX:46179081-46274411 (-)
PWK/PhJ MGP_PWKPhJ_G0034374
 protein coding gene ChrX:33513206-33602769 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034219
 protein coding gene ChrX:34799872-34886608 (-)
WSB/EiJ MGP_WSBEiJ_G0034819
 protein coding gene ChrX:45730847-45823576 (-)



Homology
more
  • Human Ortholog
    MBNL3, muscleblind like splicing regulator 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MBNL3, muscleblind like splicing regulator 3
  • Synonyms
    CHCR, MBLX, MBLX39, MBXL
  • Links
    NCBI Gene ID: 55796
    neXtProt AC: NX_Q9NUK0
    UniProt: Q9NUK0

  • Chr Location
    Xq26.2; chrX:132369320-132490035 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    5 phenotype references
Phenotype Overview

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.
Mice homozygous for an allele lacking exon 2 exhibit impaired muscle regeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    6
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.
Expression
less
Expression Overview

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
    794
  • Tissues
    70
  • cDNA Data
    45
  • Literature Summary
    7
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000036109 Ensembl Gene Model | MGI Sequence Detail 89264 C57BL/6J ±  kb
transcript ENSMUST00000114876 Ensembl | MGI Sequence Detail 2243 Not Applicable  
polypeptide ENSMUSP00000110526 Ensembl | MGI Sequence Detail 342 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 51
    cDNA 48
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
less
MGI:2147904, MGI:2443528
References
more
  • Summaries
    All 42
    Developmental Gene Expression 7
    Gene Ontology 6
    Phenotypes 5
  • Earliest
    J:77593 Squillace RM, et al., Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. Dev Biol. 2002 Oct 1;250(1):218-30
  • Latest
    J:338401 Nutter CA, et al., Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1. Brain. 2023 May 5;
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory