Phenotypes for Bscl2 MGI:5014340 MGI Mouse

decreased brown adipose tissue amount ( J:173404 )

decreased total body fat amount ( J:173404 )

• in all major fat depots

abnormal white fat cell differentation ( J:173404 )

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

abnormal epididymal fat pad morphology ( J:173404 )

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

decreased gonadal fat pad weight ( J:173404 )

• absent

decreased inguinal fat pad weight ( J:173404 )

decreased mesenteric fat pad weight ( J:173404 )

decreased retroperitoneal fat pad weight ( J:173404 )

abnormal hypodermis fat layer morphology ( J:173404 )

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

decreased subcutaneous adipose tissue amount ( J:173404 )

lipodystrophy ( J:211072 )

• males exhibit severe lipodystrophy

increased circulating glucose level ( J:173404 )

• in a glucose or insulin tolerance test

• in fasted mice

increased circulating insulin level ( J:173404 , J:211072 )

	• in fed mice (J:173404)
	• increase in fed plasma insulin levels (J:211072)

decreased circulating leptin level ( J:173404 )

increased circulating cholesterol level ( J:173404 , J:211072 )

	• only in fed mice (J:173404)
	(J:211072)

increased circulating triglyceride level ( J:173404 )

• in fasted mice

increased body temperature ( J:173404 )

• from time to time

impaired glucose tolerance ( J:173404 )

• in a glucose tolerance test, mice exhibit delayed glucose clearance compared with wild-type mice

insulin resistance ( J:173404 )

decreased circulating adiponectin level ( J:173404 )

abnormal phospholipid level ( J:211072 )

• 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

increased liver triglyceride level ( J:173404 )

• 200%

liver/biliary system phenotype ( J:173404 )

N	• mice do not exhibit steatohepatitis

enlarged liver ( J:173404 )

increased liver triglyceride level ( J:173404 )

• 200%

macrovesicular hepatic steatosis ( J:173404 )

• mainly macrovascular steatosis

microvesicular hepatic steatosis ( J:173404 )

• some microvascular steatosis

enlarged spleen ( J:173404 )

decreased body size ( J:173404 )

• until 6 weeks of age

enlarged liver ( J:173404 )

enlarged spleen ( J:173404 )

abnormal hypodermis fat layer morphology ( J:173404 )

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

decreased subcutaneous adipose tissue amount ( J:173404 )

abnormal white fat cell differentation ( J:173404 )

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

abnormal male germ cell morphology ( J:211072 )

• oligoasthenoteratozoospermia

oligozoospermia ( J:211072 )

• lower sperm counts

• cauda epididymides are almost entirely devoid of sperm but contain numerous spherical cells

teratozoospermia ( J:211072 )

• sperm is morphologically abnormal, with 60% of sperm showing head and tail abnormalities compared to 6% of controls

abnormal sperm flagellum morphology ( J:211072 )

• tail defects include folded sperm or sheath abnormalities

abnormal sperm head morphology ( J:211072 )

• defects in sperm heads include lack of the usual hook and banana-like or amorphous forms

• some sperm exhibit cavities in the sperm head

abnormal spermatid morphology ( J:211072 )

• 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

asthenozoospermia ( J:211072 )

• lower percentage of motile sperm

abnormal testis morphology ( J:211072 )

• testes contain many degenerating masses composed of fragmented spermatids and large lipid droplets

abnormal male germ cell morphology ( J:211072 )

• oligoasthenoteratozoospermia

asthenozoospermia ( J:211072 )

• lower percentage of motile sperm

abnormal testis morphology ( J:211072 )

• testes contain many degenerating masses composed of fragmented spermatids and large lipid droplets

abnormal spermatogenesis ( J:211072 )

• testes contains prominent bundles of two or more interconnected sperm

oligozoospermia ( J:211072 )

• lower sperm counts

• cauda epididymides are almost entirely devoid of sperm but contain numerous spherical cells

teratozoospermia ( J:211072 )

• sperm is morphologically abnormal, with 60% of sperm showing head and tail abnormalities compared to 6% of controls

abnormal sperm flagellum morphology ( J:211072 )

• tail defects include folded sperm or sheath abnormalities

abnormal sperm head morphology ( J:211072 )

• defects in sperm heads include lack of the usual hook and banana-like or amorphous forms

• some sperm exhibit cavities in the sperm head

abnormal spermatid morphology ( J:211072 )

• 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

abnormal spermiogenesis ( J:211072 )

• 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

male infertility ( J:211072 )

• 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

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital generalized lipodystrophy type 2		DOID:0111136	OMIM:269700	J:173404 , J:211072

Contributing Projects: 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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