Phenotypes associated with this allele

• Allele Symbol: Gba2^tm1Rus
• Allele Name: targeted mutation 1, David W Russell
• Allele ID: MGI:3691302
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gba2^tm1Rus/Gba2^tm1Rus	involves: 129S6/SvEv * C57BL/6J	MGI:3691565
ht2	Gba2^tm1Rus/Gba2^+	involves: 129S6/SvEv * C57BL/6J	MGI:3691564

Genotype
MGI:3691565

hm1

• Allelic Composition: Gba2^tm1Rus/Gba2^tm1Rus
• Genetic Background: involves: 129S6/SvEv * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal lipid level ( J:114991 )

• abnormal accumulations of a glycolipid species (mixture of monohexosylceramides) is observed in testes and brains of male and female homozygotes

• small glycolipid-containing vesicles gradually accumulate within Sertoli cells in 6- and 14-month old males, but are not found in age-matched controls

abnormal enzyme/coenzyme activity ( J:114991 )

• beta-glucosidase 2 (Gba2) activity is reduced by ~50-85% in testes and liver

• bile acid glucosyltransferase activity is undetectable in tissues

reproductive system

abnormal male germ cell morphology ( J:114991 )

♂ • increased numbers of pyknotic germ cells are observed in seminiferous tubules

oligozoospermia ( J:114991 )

♂ • sperm counts are significantly lower, with percentage of mature, motile sperm in caudal epididymis similarly reduced

globozoospermia ( J:114991 )

♂ • homozygous males have sperm with distended, round heads lacking an obvious acrosome, disordered mitochondria and dense pyknotic nuclei

abnormal Sertoli cell morphology ( J:114991 )

♂ • small glycolipid-containing vesicles gradually accumulate within Sertoli cells in 6- and 14-month old males, but are not found in age-matched controls

dilated seminiferous tubule ( J:114991 )

♂ • tubules have distended lumens

small testis ( J:114991 )

♂ • testes are significantly smaller than wild-type

decreased litter size ( J:114991 )

• average litter size is 2.8 pups compared to ~7.5-8 in heterozygous crosses and wild-type crosses

reduced male fertility ( J:114991 )

♂ • when homozygous males are bred to wild-type females, only small litters (~3 pups) are produced compared to normal litters from homozygous female-wild-type male crosses

impaired binding of sperm to zona pellucida ( J:114991 )

• sperm are deficient in zona pellucida binding

endocrine/exocrine glands

abnormal Sertoli cell morphology ( J:114991 )

♂ • small glycolipid-containing vesicles gradually accumulate within Sertoli cells in 6- and 14-month old males, but are not found in age-matched controls

dilated seminiferous tubule ( J:114991 )

♂ • tubules have distended lumens

small testis ( J:114991 )

♂ • testes are significantly smaller than wild-type

cellular

abnormal male germ cell morphology ( J:114991 )

♂ • increased numbers of pyknotic germ cells are observed in seminiferous tubules

oligozoospermia ( J:114991 )

♂ • sperm counts are significantly lower, with percentage of mature, motile sperm in caudal epididymis similarly reduced

globozoospermia ( J:114991 )

♂ • homozygous males have sperm with distended, round heads lacking an obvious acrosome, disordered mitochondria and dense pyknotic nuclei

increased apoptosis ( J:114991 )

• number of apoptotic cells in testes is significantly increased compared to wild-type

Genotype
MGI:3691564

ht2

• Allelic Composition: Gba2^tm1Rus/Gba2⁺
• Genetic Background: involves: 129S6/SvEv * C57BL/6J

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:114991 )

• beta-glucosidase 2 (Gba2) activity is reduced by ~30% in testes and liver

• bile acid glucosyltransferase activity is decreased by 20-50% in tissues