Smarcc2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
Physiological systems
18 / 24 physiological systems tested
5 Significantly impacted by the knock-out
Hearing/vestibular/ear Hematopoietic system Behavior/neurological Cardiovascular system Mortality/aging
13 No significant impact
6 Not tested
Data collections
Gene metrics:6Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| preweaning lethality, complete penetrance | 1 supporting dataset | Smarcc2em1(IMPC)J | homozygote | Early adult | N/A * | ||
| decreased thigmotaxis | 2 supporting datasets | Smarcc2em1(IMPC)J | heterozygote | Early adult | 4.05x10-5 | ||
| decreased heart rate | 1 supporting dataset | Smarcc2em1(IMPC)J | heterozygote | Early adult | 1.48x10-6 | ||
| prolonged RR interval | 1 supporting dataset | Smarcc2em1(IMPC)J | heterozygote | Early adult | 1.72x10-6 | ||
| increased mean corpuscular volume | 1 supporting dataset | Smarcc2em1(IMPC)J | heterozygote | Early adult | 3.66x10-10 |
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Human diseases caused by Smarcc2 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 Smarcc2.
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| Smarcc2em1(IMPC)J | Exon Deletion | | mouse |
| Smarcc2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |