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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bscl2tm1.1Gliu
targeted mutation 1.1, George Liu
MGI:5629937
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Bscl2tm1.1Gliu/Bscl2tm1.1Gliu
Tg(Fabp4-cre)1Rev/0
involves: 129 * 129S4/SvJaeSor MGI:5629954
cn2
Bscl2tm1.1Gliu/Bscl2tm1.1Gliu
Tg(Ddx4-cre)1Dcas/0
involves: 129 * 129S4/SvJaeSor * FVB/N MGI:5629953


Genotype
MGI:5629954
cn1
Allelic
Composition
Bscl2tm1.1Gliu/Bscl2tm1.1Gliu
Tg(Fabp4-cre)1Rev/0
Genetic
Background
involves: 129 * 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bscl2tm1.1Gliu mutation (0 available); any Bscl2 mutation (34 available)
Tg(Fabp4-cre)1Rev mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• males develop progressive lipodystrophy

homeostasis/metabolism
• increase in fed plasma insulin levels

reproductive system
N
• males exhibit normal mating behavior and sire offspring at normal frequencies, indicating normal fertility, show normal serum FSH, LH, testosterone and estradiol levels, and exhibit normal sperm

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
male infertility DOID:12336 J:211072




Genotype
MGI:5629953
cn2
Allelic
Composition
Bscl2tm1.1Gliu/Bscl2tm1.1Gliu
Tg(Ddx4-cre)1Dcas/0
Genetic
Background
involves: 129 * 129S4/SvJaeSor * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bscl2tm1.1Gliu mutation (0 available); any Bscl2 mutation (34 available)
Tg(Ddx4-cre)1Dcas mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• oligoasthenoteratozoospermia
• lower percentage of motile sperm
• testes contain many degenerating masses composed of fragmented spermatids and large lipid droplets
• testes contains prominent bundles of two or more interconnected sperm
• lower sperm counts
• cauda epididymides are almost entirely devoid of sperm but contain numerous spherical cells
• sperm is morphologically abnormal, with 18% of sperm showing head and tail abnormalities compared to 6% of controls
• tail defects include folded sperm or sheath abnormalities
• defects in sperm heads include lack of the usual hook and banana-like or amorphous forms
• some sperm exhibit cavities in the sperm head
• the numbers of spermatocytes in stages VII and VII seminiferous tubules are similar to wild-type mice, but tubules contain fewer round spermatids, indicating loss of round spermatids
• presence of large ectopic lipid droplets in round, elongating and elongated spermatids
• spermatids exhibit defects in chromatin condensation
• males exhibit structural defects in late spermiogenesis; abnormal clustering of late spermatids of seminiferous tubules at stages VII and VIII of the seminiferous epithelial cycle , with the heads of these spermatids randomly oriented instead of being aligned perpendicular to the seminiferous tubule basement membrane
• seminiferous tubule sections near completion of spermiogenesis contain massive accumulations of spermatids in bundle-like structures
• males exhibit normal mating behavior, however, no pregnancies or offspring are seen in breeding pairs of wild-type females and mutant males
• however, males show normal serum FSH, LH, testosterone and estradiol levels

cellular
• oligoasthenoteratozoospermia
• lower sperm counts
• cauda epididymides are almost entirely devoid of sperm but contain numerous spherical cells
• sperm is morphologically abnormal, with 18% of sperm showing head and tail abnormalities compared to 6% of controls
• tail defects include folded sperm or sheath abnormalities
• defects in sperm heads include lack of the usual hook and banana-like or amorphous forms
• some sperm exhibit cavities in the sperm head
• the numbers of spermatocytes in stages VII and VII seminiferous tubules are similar to wild-type mice, but tubules contain fewer round spermatids, indicating loss of round spermatids
• presence of large ectopic lipid droplets in round, elongating and elongated spermatids
• spermatids exhibit defects in chromatin condensation
• lower percentage of motile sperm

endocrine/exocrine glands
• testes contain many degenerating masses composed of fragmented spermatids and large lipid droplets

homeostasis/metabolism
N
• males exhibit normal fasting plasma levels of cholesterol, triglycerides, and glucose and normal serum levels of insulin in a fed state
• the relative content of phosphatidic acid is 46% higher in the testis
• elevation of phosphatidylinositol levels in the testis
• higher ratios of phosphatidic acid to phosphatidylcholine and of phosphatidic acid to phospholipid in the testis

adipose tissue
N
• normal levels of adipose tissue





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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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last database update
09/03/2024
MGI 6.24
The Jackson Laboratory