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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gba/Mtx1tm1Bst
targeted mutation 1, Paul Bornstein
MGI:3652597
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
 		Gba1tm1Bst/Gba1tm1Bst
Gba/Mtx1tm1Bst/Gba/Mtx1tm1Bst 		involves: 129S4/SvJae MGI:3652807
cx2
 		Gba1tm1Bst/Gba1tm1Nsb
Gba/Mtx1tm1Bst/Mtx1+ 		involves: 129S/SvEv * 129S4/SvJae MGI:3652806


Genotype
MGI:3652807
cx1
Allelic
Composition		 Gba1tm1Bst/Gba1tm1Bst
Gba/Mtx1tm1Bst/Gba/Mtx1tm1Bst
Genetic
Background		 involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm1Bst mutation (0 available); any Gba1 mutation (47 available)
Gba/Mtx1tm1Bst mutation (0 available); any Mtx1 mutation (20 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality, complete penetrance ( J:25197 )
• examination of pregnant mice at 9 days post conception revealed multiple sites of resorption among the developing embryos; homozygous embryos die between day 4 and 9




Genotype
MGI:3652806
cx2
Allelic
Composition		 Gba1tm1Bst/Gba1tm1Nsb
Gba/Mtx1tm1Bst/Mtx1+
Genetic
Background		 involves: 129S/SvEv * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm1Bst mutation (0 available); any Gba1 mutation (47 available)
Gba1tm1Nsb mutation (2 available); any Gba1 mutation (47 available)
Gba/Mtx1tm1Bst mutation (0 available); any Mtx1 mutation (20 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:25197 )
• animals die within 24 hours of birth

homeostasis/metabolism
abnormal enzyme/coenzyme level ( J:25197 )
• mutants have about 5% of control glucocerebrosidase activity




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory