Sox2 | SRY (sex determining region Y)-box 2
Physiological systems
21 / 24 physiological systems tested
7 Significantly impacted by the knock-out
Embryo Growth/size/body region Nervous system Vision/eye Behavior/neurological Cardiovascular system Mortality/aging
14 No significant impact
3 Not tested
Data collections
Gene metrics:11Significant phenotypes
5Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| preweaning lethality, complete penetrance | 3 supporting datasets | Sox2em1(IMPC)Mbp | homozygote | Early adult | N/A * | ||
| abnormal brain morphology | 1 supporting dataset | Sox2em1(IMPC)Mbp | heterozygote | Early adult | N/A * | ||
| abnormal retina vasculature morphology | 1 supporting dataset | Sox2em1(IMPC)Mbp | heterozygote | Early adult | 9.42x10-5 | ||
| embryonic lethality prior to organogenesis | 1 supporting dataset | Sox2em1(IMPC)Mbp | homozygote | E9.5 | N/A * | ||
| irregularly shaped pupil | 1 supporting dataset | Sox2em1(IMPC)Mbp | heterozygote | Early adult | 2.83x10-6 | ||
| abnormal optic disk morphology | 1 supporting dataset | Sox2em1(IMPC)Mbp | heterozygote | Early adult | 6.44x10-9 | ||
| abnormal retina blood vessel morphology | 1 supporting dataset | Sox2em1(IMPC)Mbp | heterozygote | Early adult | 7.68x10-5 | ||
| embryonic growth retardation | 1 supporting dataset | Sox2em1(IMPC)Mbp | heterozygote | E9.5 | N/A * | ||
| enhanced contextual conditioning behavior | 1 supporting dataset | Sox2em1(IMPC)Mbp | heterozygote | Early adult | 3x10-8 |
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Human diseases caused by Sox2 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.
This gene doesn't have any significant Histopathology hits. Click here to see the raw data
External links
No external links available for Sox2.
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| Sox2em1(IMPC)Mbp | Whole-gene deletion | | mouse |
| Sox2tm400582(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |