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Mlh1 Gene Detail
 Symbol
Name
ID
Mlh1
mutL homolog 1 (E. coli)
MGI:101938


Nomenclature History
Synonyms 1110035C23Rik, colon cancer, nonpolyposis type 2
Genetic Map
Chromosome 9
62.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 2)

Sequence Map
Chr9:111130732-111174112 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Mlh1 ± 2 cM)
Protein SuperFamily: DNA mismatch repair protein, Mlh1 type
TreeFam: TF300493
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000031784 VEGA Gene Model | MGI Sequence Detail 43381 C57BL/6J ± Kb
transcript NM_026810 RefSeq | MGI Sequence Detail 2548 CZECHII
polypeptide Q9JK91 UniProt | EBI | MGI Sequence Detail 760 Not Applicable
For the selected sequences
All sequences(35)
Phenotypes All phenotypic alleles(4) : Targeted, knock-out(3) Targeted, other(1)
Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors.
Phenotype Images (1)  
Polymorphisms SNPs within 2kb(278 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
Process cell cycle, DNA damage response, signal transduction resulting in induction of apoptosis...
Component chiasma, chromosome...
Function ATP binding, guanine/thymine mispair binding...
All GO classifications(46)
Expression Literature Summary: (7 records)
Data Summary: Assays (1)    Results (2)    Tissues (1)    Images (1)
Theiler Stages: 28
  Assay Type Assays   Results
      RT-PCR 1   2
cDNA source data(56)
External Resources: Allen Brain Atlas  GEO 
Other database
links
Ensembl Gene Model ENSMUSG00000032498
DoTS DT.101140778, DT.490690, DT.94219805, DT.99850998
UniGene 196006
DFCI TC1577324, TC1594658, TC1672190
NIA Mouse Gene Index U031377
Entrez Gene 17350
VEGA Gene Model OTTMUSG00000031784
Gene Traps AD0694, CMHD-GT_252C9-3, OST181272, OST234108, OST312756    (All 6...)
Protein
domains
InterPro ID Description
IPR002099 DNA mismatch repair protein
IPR003594 ATP-binding region, ATPase-like
IPR011186 DNA mismatch repair protein Mlh1
IPR013507 DNA mismatch repair protein, C-terminal
IPR014721 Ribosomal protein S5 domain 2-type fold
IPR014762 DNA mismatch repair, conserved site
IPR014763 DNA mismatch repair protein, N-terminal
Graphical View of Protein Domain Structure
Molecular
reagents
All nucleic(57) cDNA(56) Primer pair(1)
References
(Earliest) J:17196 Bronner CE et al., "Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer." Nature 1994 Mar 17;368(6468):258-61
(Latest) J:139050 Frumkin D et al., "Cell lineage analysis of a mouse tumor." Cancer Res 2008 Jul 15;68(14):5924-31
All references(75)
Other
accession IDs
MGD-MRK-18771, MGI:1915937, MGI:2143018, MGI:2143023, MGI:2143094

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/08/2009
MGI_4.13
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The Jackson Laboratory