Hmx2 | H6 homeobox 2

GeneMGI:107159Synonyms: Nkx5-2

Physiological systems

21 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Growth/size/body region Hearing/vestibular/ear Skeleton Mortality/aging Renal/urinary system

16 No significant impact

3 Not tested

Gene metrics:13Significant phenotypes
0Associated diseases
Expression examined in:73Adult tissues
0Embryo tissues

Phenotypes

abnormal kidney morphology2 supporting datasetsHmx2tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
enlarged kidney2 supporting datasetsHmx2tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
polycystic kidney2 supporting datasetsHmx2tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
increased bone mineral content1 supporting datasetHmx2tm1.1(KOMP)VlcghomozygoteEarly adult4.03x10-5 
abnormal auditory brainstem response1 supporting datasetHmx2tm1.1(KOMP)VlcghomozygoteEarly adult7.19x10-5 
preweaning lethality, incomplete penetrance1 supporting datasetHmx2tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
increased kidney weight1 supporting datasetHmx2tm1.1(KOMP)VlcghomozygoteEarly adult8.88x10-41 
* Does not have a P-value assigned because it was manually marked as significant.
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* This parameter was manually assessed for significance.
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lacZ Expression

adrenal glandheterozygoten/a0% (0/2)0.7% (4/570)
aortaheterozygoten/a0% (0/2)0.19% (1/533)
bloodheterozygoten/a0% (0/2)0% (0/17)
bone marrowheterozygoten/a0% (0/2)0% (0/22)
brainheterozygoten/a100% (2/2)0.86% (5/579)
brainstemheterozygoten/an/a0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/an/a0.22% (1/454)
cecumheterozygoteSection images
50% (1/2)7.75% (22/284)
cerebellumheterozygoten/a0% (0/2)0.56% (3/532)
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Human diseases caused by Hmx2 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.






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Histopathology

IMPC related publications

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Hmx2tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
mouse
Hmx2tm1.1(KOMP)VlcgReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Hmx2tm100694(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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