Smarcad1 | SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Physiological systems
19 / 24 physiological systems tested
4 Significantly impacted by the knock-out
Embryo Growth/size/body region Behavior/neurological Mortality/aging
15 No significant impact
5 Not tested
Gene metrics:4Significant phenotypes
6Associated diseases
Expression examined in:51Adult tissues
62Embryo tissues
| hyperactivity | 1 supporting dataset | Smarcad1tm1b(EUCOMM)Hmgu | homozygote | Early adult | 1.87x10-5 | ||
| unresponsive to tactile stimuli | 1 supporting dataset | Smarcad1tm1b(EUCOMM)Hmgu | homozygote | E18.5 | N/A * | ||
| unresponsive to tactile stimuli | 1 supporting dataset | Smarcad1tm1b(EUCOMM)Hmgu | heterozygote | E18.5 | N/A * | ||
| preweaning lethality, incomplete penetrance | 2 supporting datasets | Smarcad1tm1b(EUCOMM)Hmgu | homozygote | Early adult | N/A * | ||
| abnormal embryo size | 1 supporting dataset | Smarcad1tm1b(EUCOMM)Hmgu | homozygote | E18.5 | N/A * |
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| adrenal gland | heterozygote | n/a | 0% (0/2) | 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 | 0% (0/2) | 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 | 0% (0/2) | 0.22% (1/454) |
| cecum | heterozygote | n/a | 0% (0/2) | 7.75% (22/284) |
| cerebellum | heterozygote | n/a | 0% (0/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | n/a | 0% (0/2) | 0.41% (2/491) |
Human diseases caused by Smarcad1 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 Smarcad1.
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| Smarcad1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Smarcad1tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Smarcad1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |