Type |
Details |
Score |
Genotype |
Symbol: |
Pms2/Pms2<+> |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Pms1/Pms1<+> |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Htt/Htt<+> Pms1/Pms1 |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Shao C |
Year: |
2004 |
Journal: |
Oncogene |
Title: |
Mlh1 mediates tissue-specific regulation of mitotic recombination. |
Volume: |
23 |
Issue: |
56 |
Pages: |
9017-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Goold R |
Year: |
2021 |
Journal: |
Cell Rep |
Title: |
FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease. |
Volume: |
36 |
Issue: |
9 |
Pages: |
109649 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sobol RW |
Year: |
2003 |
Journal: |
J Biol Chem |
Title: |
Base excision repair intermediates induce p53-independent cytotoxic and genotoxic responses. |
Volume: |
278 |
Issue: |
41 |
Pages: |
39951-9 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Apc/Apc<+> Pms2/Pms2 |
Background: |
involves: 129S2/SvPas * C57BL/6J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Apc/Apc<+> Pms2/Pms2 |
Background: |
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Htt/Htt<+> Pms2/Pms2<+> |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Mansouri A |
Year: |
1997 |
Journal: |
Dev Dyn |
Title: |
Paired-related murine homeobox gene expressed in the developing sclerotome, kidney, and nervous system. |
Volume: |
210 |
Issue: |
1 |
Pages: |
53-65 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yoshioka K |
Year: |
2006 |
Journal: |
Mol Cell |
Title: |
ATR kinase activation mediated by MutSalpha and MutLalpha in response to cytotoxic O6-methylguanine adducts. |
Volume: |
22 |
Issue: |
4 |
Pages: |
501-10 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Pms2/Pms2 |
Background: |
involves: 129S4/SvJaeSor |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Pms2/Pms2<+> |
Background: |
involves: 129S4/SvJaeSor |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Htt/Htt<+> Pms1/Pms1<+> |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Mizuta R |
Year: |
1997 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
RAB22 and RAB163/mouse BRCA2: proteins that specifically interact with the RAD51 protein. |
Volume: |
94 |
Issue: |
13 |
Pages: |
6927-32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kneitz B |
Year: |
2000 |
Journal: |
Genes Dev |
Title: |
MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. |
Volume: |
14 |
Issue: |
9 |
Pages: |
1085-97 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Kras/Kras<+> Pms2/Pms2 |
Background: |
involves: 129S4/SvJae * 129S4/SvJaeSor |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Horii A |
Year: |
1994 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. |
Volume: |
204 |
Issue: |
3 |
Pages: |
1257-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Prolla TA |
Year: |
1996 |
Journal: |
Semin Cancer Biol |
Title: |
DNA mismatch repair deficient mice in cancer research. |
Volume: |
7 |
Issue: |
5 |
Pages: |
241-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang N |
Year: |
2025 |
Journal: |
Cell |
Title: |
Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD mice. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Modrich P |
Year: |
1987 |
Journal: |
Annu Rev Biochem |
Title: |
DNA mismatch correction. |
Volume: |
56 |
|
Pages: |
435-66 |
|
•
•
•
•
•
|
Publication |
First Author: |
Prolla TA |
Year: |
1994 |
Journal: |
Mol Cell Biol |
Title: |
Dual requirement in yeast DNA mismatch repair for MLH1 and PMS1, two homologs of the bacterial mutL gene. |
Volume: |
14 |
Issue: |
1 |
Pages: |
407-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bronner CE |
Year: |
1994 |
Journal: |
Nature |
Title: |
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. |
Volume: |
368 |
Issue: |
6468 |
Pages: |
258-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bernstein C |
Year: |
2002 |
Journal: |
Mutat Res |
Title: |
DNA repair/pro-apoptotic dual-role proteins in five major DNA repair pathways: fail-safe protection against carcinogenesis. |
Volume: |
511 |
Issue: |
2 |
Pages: |
145-78 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Conserved_site |
Description: |
Mismatch repair contributes to the overall fidelity of DNA replication []. It involves the correction of mismatched base pairs that have been missed by the proofreading element of the DNA polymerase complex. The sequence of some proteins involved in mismatch repair in different organisms have been found to be evolutionarily related. These proteins include:Escherichia coli and Salmonella typhimurium mutL protein []. MutL is required for dam-dependent methyl-directed DNA repair.Streptococcus pneumoniae hexB protein []. The Hex system is nick directed.Yeast proteins PMS1 and MLH1 [].Human protein MLH1 []which is involved in a form of familial hereditary nonpolyposis colon cancer (HNPCC).This entry represents a perfectly conserved heptapeptide which is located in the N-terminal sectionof these proteins. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Mismatch repair is one of five major DNA repair pathways, the others being homologous recombination repair, non-homologous end joining, nucleotide excision repair, and base excision repair. The mismatch repair system recognises and repairs mispaired or unpaired nucleotides that result from errors in DNA replication. Many proteins involved in the different repair processes also play a role in apoptosis when DNA damage is excessive, thereby helping to prevent carcinogenesis []. The mismatch repair protein, Mlh1 (mutL homologue 1), has a dual role in DNA repair and apoptosis. Mlh1 acts as a heterodimer in conjunction with Pms2, Pms1 (post-meiotic segregation 1 and 2) or Mlh3 (MutL homologue 3), which function as adaptor proteins that link Msh (MutS homologue) heterodimers to the DNA repair machinery, resulting in excision and repair of the mispaired base [].This entry represents the mismatch repair protein MutL. |
|
•
•
•
•
•
|
Publication |
First Author: |
Lipkin SM |
Year: |
2002 |
Journal: |
Nat Genet |
Title: |
Meiotic arrest and aneuploidy in MLH3-deficient mice. |
Volume: |
31 |
Issue: |
4 |
Pages: |
385-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lipkin SM |
Year: |
2000 |
Journal: |
Nat Genet |
Title: |
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. |
Volume: |
24 |
Issue: |
1 |
Pages: |
27-35 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jonckheere N |
Year: |
2004 |
Journal: |
Biochem J |
Title: |
Transcriptional activation of the murine Muc5ac mucin gene in epithelial cancer cells by TGF-beta/Smad4 signalling pathway is potentiated by Sp1. |
Volume: |
377 |
Issue: |
Pt 3 |
Pages: |
797-808 |
|
•
•
•
•
•
|
Publication |
First Author: |
Keil KP |
Year: |
2013 |
Journal: |
Gene Expr Patterns |
Title: |
Catalog of mRNA expression patterns for DNA methylating and demethylating genes in developing mouse lower urinary tract. |
Volume: |
13 |
Issue: |
8 |
Pages: |
413-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
McLachlan S |
Year: |
2011 |
Journal: |
Physiol Genomics |
Title: |
In silico QTL mapping of basal liver iron levels in inbred mouse strains. |
Volume: |
43 |
Issue: |
3 |
Pages: |
136-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Drotschmann K |
Year: |
2002 |
Journal: |
Biol Chem |
Title: |
DNA binding properties of the yeast Msh2-Msh6 and Mlh1-Pms1 heterodimers. |
Volume: |
383 |
Issue: |
6 |
Pages: |
969-75 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
318
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
760
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
461
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
653
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
338
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
434
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
760
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
859
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1443
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1411
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
859
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1411
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
917
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
669
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Blackshaw S |
Year: |
2004 |
Journal: |
PLoS Biol |
Title: |
Genomic analysis of mouse retinal development. |
Volume: |
2 |
Issue: |
9 |
Pages: |
E247 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGI and IMPC |
Year: |
2018 |
Journal: |
Database Release |
Title: |
MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GO Central curators, GOA curators, Rhea curators |
Year: |
2020 |
|
Title: |
Automatic Gene Ontology annotation based on Rhea mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
DDB, FB, MGI, GOA, ZFIN curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Church DM |
Year: |
2009 |
Journal: |
PLoS Biol |
Title: |
Lineage-specific biology revealed by a finished genome assembly of the mouse. |
Volume: |
7 |
Issue: |
5 |
Pages: |
e1000112 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|