Nhlh2 | nescient helix loop helix 2
Physiological systems
21 / 24 physiological systems tested
13 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Immune system Endocrine/exocrine gland Adipose tissue Growth/size/body region Vision/eye Hematopoietic system Behavior/neurological Skeleton Cardiovascular system Mortality/aging Renal/urinary system
8 No significant impact
3 Not tested
Data collections
Gene metrics:29Significant phenotypes
2Associated diseases
Expression examined in:73Adult tissues
0Embryo tissues
| absent ovary | 1 supporting dataset | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| abnormal urinary bladder morphology | 1 supporting dataset | Nhlh2em1(IMPC)Mbp | homozygote | Early adult | N/A * | ||
| absent testes | 1 supporting dataset | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| abnormal epididymis morphology | 1 supporting dataset | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| absent epididymis | 1 supporting dataset | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| decreased bone mineral content | 2 supporting datasets | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | 2.24x10-17 | ||
| abnormal cholesterol homeostasis | 1 supporting dataset | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | 1.21x10-8 | ||
| small uterus | 1 supporting dataset | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| decreased lean body mass | 2 supporting datasets | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | 9.13x10-8 | ||
| preweaning lethality, incomplete penetrance | 1 supporting dataset | Nhlh2tm1b(KOMP)Mbp | homozygote | Early adult | N/A * |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 0% (0/5) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/5) | 0.19% (1/533) |
| blood | heterozygote | n/a | 0% (0/1) | 0% (0/17) |
| bone marrow | heterozygote | n/a | 0% (0/2) | 0% (0/22) |
| brain | heterozygote | Wholemount images | 100% (5/5) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | n/a | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/5) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | n/a | 0.22% (1/454) |
| cecum | heterozygote | n/a | 40% (2/5) | 7.75% (22/284) |
| cerebellum | heterozygote | Section images Wholemount images | 80% (4/5) | 0.56% (3/532) |
Human diseases caused by Nhlh2 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 Nhlh2.
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