Gba1 | glucosylceramidase beta 1
Physiological systems
17 / 24 physiological systems tested
5 Significantly impacted by the knock-out
Homeostasis/metabolism Hematopoietic system Cardiovascular system Mortality/aging Craniofacial
12 No significant impact
7 Not tested
Data collections
Gene metrics:5Significant phenotypes
13Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| increased mean platelet volume | 1 supporting dataset | Gba1em1(IMPC)H | heterozygote | Early adult | 7.38x10-6 | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Gba1em1(IMPC)H | homozygote | Early adult | N/A * | ||
| abnormal craniofacial morphology | 1 supporting dataset | Gba1em1(IMPC)H | homozygote | E18.5 | 6.71x10-6 | ||
| increased circulating amylase level | 1 supporting dataset | Gba1em1(IMPC)H | heterozygote | Early adult | 7.07x10-8 | ||
| prolonged QRS complex duration | 1 supporting dataset | Gba1em1(IMPC)H | heterozygote | Early adult | 7.08x10-12 |
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Human diseases caused by Gba1 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 Gba1.
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| Gba1em1(IMPC)H | Exon Deletion | | mouse |
| Gba1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Gba1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Gba1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |
| Gba1tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | | ES Cell |