Mlh1 | mutL homolog 1
Physiological systems
20 / 24 physiological systems tested
7 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Immune system Endocrine/exocrine gland Growth/size/body region Vision/eye Hematopoietic system
13 No significant impact
4 Not tested
Data collections
Gene metrics:6Significant phenotypes
5Associated diseases
Expression examined in:46Adult tissues
42Embryo tissues
| cataract | 1 supporting dataset | Mlh1tm1b(EUCOMM)Hmgu | homozygote | Early adult | 3.76x10-5 | ||
| small testis | 1 supporting dataset | Mlh1tm1b(EUCOMM)Hmgu | homozygote | Early adult | N/A * | ||
| increased spleen weight | 1 supporting dataset | Mlh1tm1b(EUCOMM)Hmgu | homozygote | Early adult | 5.03x10-39 | ||
| increased circulating aspartate transaminase level | 1 supporting dataset | Mlh1tm1b(EUCOMM)Hmgu | homozygote | Early adult | 3.21x10-7 | ||
| male infertility | 1 supporting dataset | Mlh1tm1b(EUCOMM)Hmgu | homozygote | Early adult | N/A * | ||
| increased circulating alanine transaminase level | 1 supporting dataset | Mlh1tm1b(EUCOMM)Hmgu | homozygote | Early adult | 7.35x10-11 |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 100% (2/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/2) | 0.19% (1/533) |
| bone | heterozygote | n/a | 0% (0/2) | 0% (0/394) |
| brain | heterozygote | n/a | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | 0% (0/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | 100% (2/2) | 0.22% (1/454) |
| cerebellum | heterozygote | n/a | 100% (2/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | n/a | 0% (0/2) | 0.41% (2/491) |
| esophagus | heterozygote | n/a | 0% (0/2) | 1.67% (7/419) |
Human diseases caused by Mlh1 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.
External links
No external links available for Mlh1.
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| Mlh1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Mlh1tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Mlh1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |