Lrrc8a | leucine rich repeat containing 8A VRAC subunit A
Physiological systems
15 / 24 physiological systems tested
7 Significantly impacted by the knock-out
Homeostasis/metabolism Embryo Growth/size/body region Vision/eye Respiratory system Craniofacial Mortality/aging
8 No significant impact
9 Not tested
Gene metrics:8Significant phenotypes
2Associated diseases
Expression examined in:73Adult tissues
29Embryo tissues
| edema | 1 supporting dataset | Lrrc8atm1.1(KOMP)Vlcg | homozygote | E15.5 | N/A * | ||
| abnormal embryo size | 1 supporting dataset | Lrrc8atm1.1(KOMP)Vlcg | homozygote | E15.5 | N/A * | ||
| abnormal lung morphology | 1 supporting dataset | Lrrc8atm1.1(KOMP)Vlcg | heterozygote | Early adult | N/A * | ||
| enlarged lung | 1 supporting dataset | Lrrc8atm1.1(KOMP)Vlcg | heterozygote | Early adult | N/A * | ||
| preweaning lethality, complete penetrance | 3 supporting datasets | Lrrc8atm1.1(KOMP)Vlcg | homozygote | Early adult | N/A * | ||
| anophthalmia | 1 supporting dataset | Lrrc8atm1.1(KOMP)Vlcg | homozygote | E15.5 | N/A * | ||
| abnormal craniofacial morphology | 1 supporting dataset | Lrrc8atm1.1(KOMP)Vlcg | homozygote | E15.5 | N/A * | ||
| abnormal eye morphology | 1 supporting dataset | Lrrc8atm1.1(KOMP)Vlcg | heterozygote | Early adult | N/A * |
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| adrenal gland | heterozygote | Section images | 100% (4/4) | 0.7% (4/570) |
| aorta | heterozygote | Section images | 100% (4/4) | 0.19% (1/533) |
| blood | heterozygote | n/a | 0% (0/2) | 0% (0/17) |
| bone marrow | heterozygote | Section images | 50% (1/2) | 0% (0/22) |
| brain | heterozygote | Section images | 100% (4/4) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | 100% (2/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | Section images | 100% (4/4) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | 0% (0/2) | 0.22% (1/454) |
| cecum | heterozygote | Section images | 100% (2/2) | 7.75% (22/284) |
| cerebellum | heterozygote | Section images | 50% (2/4) | 0.56% (3/532) |
Human diseases caused by Lrrc8a 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 Lrrc8a.
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| Lrrc8atm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell mouse |
| Lrrc8atm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | | mouse |
| Lrrc8atm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |
| Lrrc8atm2a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Lrrc8atm2e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |