Mbnl1 Gene Detail

Summary

• Symbol
  Mbnl1
• Name
  muscleblind like splicing regulator 1
• Synonyms
  mKIAA0428

• Feature Type
  protein coding gene
• IDs
  MGI:1928482
  NCBI Gene: 56758
• Alliance
  gene page
• Transcription Start Sites
  78 TSS

Location &
Maps

• Sequence Map
  Chr3:60380251-60537171 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 3, 29.17 cM, cytoband E1
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  3260 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1928482	protein coding gene	Chr3:60380209-60537171 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027254	protein coding gene	Chr3:59392791-59562366 (+)
A/J	MGP_AJ_G0027214	protein coding gene	Chr3:57662168-57826899 (+)
AKR/J	MGP_AKRJ_G0027184	protein coding gene	Chr3:58783877-58955941 (+)
BALB/cJ	MGP_BALBcJ_G0027227	protein coding gene	Chr3:57386032-57551686 (+)
C3H/HeJ	MGP_C3HHeJ_G0026970	protein coding gene	Chr3:58966018-59133951 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027673	protein coding gene	Chr3:61629543-61818681 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025027	protein coding gene	Chr3:54391067-54555932 (+)
CAST/EiJ	MGP_CASTEiJ_G0026422	protein coding gene	Chr3:59181508-59359943 (+)
CBA/J	MGP_CBAJ_G0026946	protein coding gene	Chr3:63674130-63842107 (+)
DBA/2J	MGP_DBA2J_G0027080	protein coding gene	Chr3:57073547-57247498 (+)
FVB/NJ	MGP_FVBNJ_G0027048	protein coding gene	Chr3:55967731-56133483 (+)
LP/J	MGP_LPJ_G0027191	protein coding gene	Chr3:60228236-60399701 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027065	protein coding gene	Chr3:67872211-68048038 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027731	protein coding gene	Chr3:58697242-58868960 (+)
PWK/PhJ	MGP_PWKPhJ_G0026154	protein coding gene	Chr3:56711021-56876941 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025967	protein coding gene	Chr3:58302634-58479017 (+)
WSB/EiJ	MGP_WSBEiJ_G0026496	protein coding gene	Chr3:58808640-58976367 (+)

Homology

• Human Ortholog
  MBNL1, muscleblind like splicing regulator 1

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  MBNL1, muscleblind like splicing regulator 1
  
• Synonyms
  EXP, MBNL
• Links
  HGNC:6923

  NCBI Gene ID: 4154

  neXtProt AC: NX_Q9NR56

  UniProt: Q9NR56

  
  
• Chr Location
  3q25.1-q25.2; chr3:152243632-152465780 (+)  GRCh38

---

• MGI Vertebrate Homology
  Mbnl1 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: MBNL1
• Gene Tree
  Mbnl1
  

Human Diseases

• Diseases
  1 with Mbnl1 mouse models

Human Disease

Mouse Models

myotonic disease

IDs

myotonic disease      

DOID:450
ICD10CM:G71.1
ICD9CM:359.2
MESH:D020967
NCI:C84913
UMLS_CUI:C0553604

View 2 models

Mouse Models

Human Disease Modeled: myotonic disease

Allelic Composition	Genetic Background	Reference	Phenotypes
Mbnl1tm1Sws/Mbnl1tm1Sws	involves: 129S1/Sv * C57BL/6J	J:86903	View
Mbnl1tm1Sws/Mbnl1tm1Sws Mbnl2tm1.1Sws/Mbnl2+	involves: 129S1/Sv * 129S1/SvImJ * C57BL	J:218011	View

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

• Mutations/Alleles
  1 with disease annotations

• References
  3 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  4 phenotypes from 1 allele in 1 genetic background
  27 phenotypes from multigenic genotypes
  45 phenotype references
  

• All Mutations and Alleles
  18
• Chemically induced (other)
  1
• Endonuclease-mediated
  3
• Gene trapped
  7
• Radiation induced
  1
• Targeted
  6
• Genomic Mutations
  2 involving Mbnl1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  39 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for a targeted mutation that disrupts exon 3 exhibit myotonia, cataracts and RNA splicing defects.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  34
• GO References
  13

Expression

• Assay Results
  976
• Tissues
  130
• cDNA Data
  24
• Literature Summary
  21

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  GEISHA MBNL1
  Xenbase mbnl1

Sequences &
Gene Models

• All Sequences
  203
• RefSeq
  100
• UniProt
  17
• CCDS
  CCDS17376.1, CCDS79916.1, CCDS79917.1, CCDS79918.1, CCDS79919.1

• Ensembl
  ENSMUSG00000027763 (Evidence)
• NCBI Gene
  56758

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000027763	Ensembl Gene Model | MGI Sequence Detail	156921	C57BL/6J
transcript	ENSMUST00000193517	Ensembl | MGI Sequence Detail	5151	Not Applicable
polypeptide	ENSMUSP00000141287	Ensembl | MGI Sequence Detail	387	Not Applicable

Protein
Information

• UniProt
  17 Sequences
• Protein Ontology
  PR:000010221 muscleblind-like protein 1
  (term hierarchy)
• InterPro Domains
  IPR000571 Zinc finger, CCCH-type
• GlyGen
  Q9JKP5 1 site, 1 O-linked glycan (1 site)

Molecular
Reagents

• All nucleic 32

  cDNA 25

  Primer pair 7

  
  

  Microarray probesets 4

References

• Summaries
  All 109

  Developmental Gene Expression 21

  Diseases 3

  Gene Ontology 13

  Phenotypes 45
• Earliest
  J:114763 Miller JW, et al., Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 2000 Sep 1;19(17):4439-48
• Latest
  J:357928 Piasecka A, et al., MBNL splicing factors regulate the microtranscriptome of skeletal muscles. Nucleic Acids Res. 2024 Oct 28;52(19):12055-12073

TSS for Mbnl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr29248	Chr3:60379619-60379627 (+)	-628 bp
Tssr29249	Chr3:60379641-60379654 (+)	-603 bp
Tssr29250	Chr3:60380015-60380029 (+)	-229 bp
Tssr29251	Chr3:60380052-60380087 (+)	-181 bp
Tssr29252	Chr3:60380101-60380108 (+)	-146 bp
Tssr29253	Chr3:60380152-60380162 (+)	-94 bp
Tssr29254	Chr3:60380204-60380207 (+)	-45 bp
Tssr29255	Chr3:60380213-60380227 (+)	-31 bp
Tssr29256	Chr3:60380228-60380237 (+)	-18 bp
Tssr29257	Chr3:60380243-60380258 (+)	0 bp
Tssr29258	Chr3:60380483-60380504 (+)	243 bp
Tssr29259	Chr3:60380519-60380549 (+)	283 bp
Tssr29260	Chr3:60382830-60382852 (+)	2,590 bp
Tssr29261	Chr3:60383350-60383371 (+)	3,110 bp
Tssr29262	Chr3:60383439-60383471 (+)	3,204 bp
Tssr29263	Chr3:60387257-60387268 (+)	7,012 bp
Tssr29264	Chr3:60387299-60387306 (+)	7,052 bp
Tssr29265	Chr3:60387956-60387978 (+)	7,716 bp
Tssr29266	Chr3:60388002-60388019 (+)	7,760 bp
Tssr29267	Chr3:60388218-60388229 (+)	7,973 bp
Tssr29268	Chr3:60388269-60388292 (+)	8,030 bp
Tssr29269	Chr3:60388374-60388386 (+)	8,129 bp
Tssr29270	Chr3:60388422-60388445 (+)	8,183 bp
Tssr29271	Chr3:60388515-60388557 (+)	8,285 bp
Tssr29272	Chr3:60388559-60388694 (+)	8,376 bp
Tssr29273	Chr3:60394860-60394875 (+)	14,617 bp
Tssr29274	Chr3:60395133-60395152 (+)	14,892 bp
Tssr29275	Chr3:60396756-60396767 (+)	16,511 bp
Tssr29276	Chr3:60403632-60403680 (+)	23,405 bp
Tssr29277	Chr3:60405311-60405350 (+)	25,080 bp
Tssr29278	Chr3:60408102-60408126 (+)	27,863 bp
Tssr29279	Chr3:60408178-60408216 (+)	27,946 bp
Tssr29280	Chr3:60408635-60408663 (+)	28,398 bp
Tssr29281	Chr3:60408678-60408696 (+)	28,436 bp
Tssr29282	Chr3:60408798-60408809 (+)	28,553 bp
Tssr887	Chr3:60409282-60409301 (+)	29,041 bp
Tssr29283	Chr3:60409305-60409329 (+)	29,066 bp
Tssr29284	Chr3:60409398-60409421 (+)	29,159 bp
Tssr29285	Chr3:60409691-60409700 (+)	29,445 bp
Tssr29286	Chr3:60412455-60412459 (+)	32,206 bp
Tssr29287	Chr3:60415885-60415892 (+)	35,638 bp
Tssr29288	Chr3:60420952-60420958 (+)	40,704 bp
Tssr29289	Chr3:60424288-60424302 (+)	44,044 bp
Tssr29290	Chr3:60424372-60424383 (+)	44,127 bp
Tssr29291	Chr3:60424570-60424573 (+)	44,321 bp
Tssr29292	Chr3:60431770-60431783 (+)	51,526 bp
Tssr29293	Chr3:60433279-60433290 (+)	53,034 bp
Tssr29294	Chr3:60435485-60435555 (+)	55,269 bp
Tssr29295	Chr3:60435668-60435677 (+)	55,422 bp
Tssr29296	Chr3:60435684-60435737 (+)	55,460 bp
Tssr29297	Chr3:60435890-60435916 (+)	55,652 bp
Tssr29298	Chr3:60435931-60435942 (+)	55,686 bp
Tssr29299	Chr3:60436163-60436200 (+)	55,931 bp
Tssr29300	Chr3:60436641-60436678 (+)	56,409 bp
Tssr29301	Chr3:60436849-60436874 (+)	56,611 bp
Tssr29302	Chr3:60436987-60437002 (+)	56,744 bp
Tssr29303	Chr3:60437122-60437160 (+)	56,890 bp
Tssr29304	Chr3:60437497-60437500 (+)	57,248 bp
Tssr29305	Chr3:60437740-60437746 (+)	57,492 bp
Tssr29306	Chr3:60438655-60438673 (+)	58,413 bp
Tssr29307	Chr3:60454239-60454243 (+)	73,990 bp
Tssr29308	Chr3:60467619-60467623 (+)	87,370 bp
Tssr29309	Chr3:60474970-60474986 (+)	94,727 bp
Tssr29311	Chr3:60503009-60503025 (+)	122,766 bp
Tssr29312	Chr3:60503051-60503078 (+)	122,814 bp
Tssr29315	Chr3:60521842-60521855 (+)	141,598 bp
Tssr29316	Chr3:60524515-60524537 (+)	144,275 bp
Tssr29317	Chr3:60524735-60524758 (+)	144,496 bp
Tssr29318	Chr3:60524801-60524824 (+)	144,562 bp
Tssr29319	Chr3:60524860-60524893 (+)	144,626 bp
Tssr29320	Chr3:60525616-60525625 (+)	145,370 bp
Tssr29321	Chr3:60529572-60529590 (+)	149,330 bp
Tssr29322	Chr3:60533991-60534022 (+)	153,756 bp
Tssr29323	Chr3:60534154-60534167 (+)	153,910 bp
Tssr29324	Chr3:60534206-60534240 (+)	153,972 bp
Tssr29325	Chr3:60534330-60534348 (+)	154,088 bp
Tssr29326	Chr3:60534385-60534414 (+)	154,149 bp
Tssr29327	Chr3:60535287-60535414 (+)	155,100 bp