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Phenotypes Associated with This Genotype
Genotype
MGI:5014340
Allelic
Composition
Bscl2tm1.2Gliu/Bscl2tm1.2Gliu
Genetic
Background
involves: 129 * 129S4/SvJaeSor * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bscl2tm1.2Gliu mutation (0 available); any Bscl2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• in all major fat depots
• at 3 months, white epididymal and subcutaneous fat contains only small immature adipocytes unlike in wild-type mice
• at 3 months, white epididymal fat contains only small immature adipocytes unlike in wild-type mice
• at 3 months, subcutaneous fat contains only small immature adipocytes unlike in wild-type mice
• males exhibit severe lipodystrophy

homeostasis/metabolism
• in a glucose or insulin tolerance test
• in fasted mice
• in fed mice (J:173404)
• increase in fed plasma insulin levels (J:211072)
• only in fed mice (J:173404)
(J:211072)
• from time to time
• in a glucose tolerance test, mice exhibit delayed glucose clearance compared with wild-type mice
• the relative content of phosphatidic acid is 133% higher in the testis
• phosphatidylcholine and phospholipid levels are 19% and 16% higher, respectively, in the testis

liver/biliary system
N
• mice do not exhibit steatohepatitis
• mainly macrovascular with some microvascular steatosis

immune system

growth/size/body
• until 6 weeks of age

hematopoietic system

integument
• at 3 months, subcutaneous fat contains only small immature adipocytes unlike in wild-type mice

cellular
• at 3 months, white epididymal and subcutaneous fat contains only small immature adipocytes unlike in wild-type mice
• oligoasthenoteratozoospermia
• lower sperm counts
• cauda epididymides are almost entirely devoid of sperm but contain numerous spherical cells
• sperm is morphologically abnormal, with 60% 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

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

reproductive system
• oligoasthenoteratozoospermia
• 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 60% 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
• lower percentage of motile sperm

Mouse Models of Human Disease
OMIM ID Ref(s)
Lipodystrophy, Congenital Generalized, Type 2; CGL2 269700 J:173404 , J:211072


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory