All Phenotypes Tsc22d3<tm1.2Hum> MGI Mouse

azoospermia ( J:223992 , J:226675 )

• in 2 to 6 month old hemizygotes no germ cells or mature spermatozoa are found (J:223992)

• at 80 days of age no spermatozoa are found in the testes (J:226675)

• at 21 days of age no round spermatids are found in the seminiferous epithelium and there are many pycnotic germ cells (J:226675)

arrest of male meiosis ( J:226675 )

• failed meiotic progression with defects in early meiosis I, with preleptotene, leptotene, and zygotene stages found at 12 days of age, but few pachytene spermatocytes indicating that arrest occurs at mid-late zygotene

• high levels of asynapsis is found in leptotene and zygotene spermatocytes assessed at 12 days of age

increased male germ cell apoptosis ( J:226675 )

• at 5 days of age, during the mitotic phase, there is a 2-fold increase in spermatogonial apoptosis, and at 10 days of age, when preleptotene spermatocytes normally enter meiosis I, there is an approximately 3-fold increase in apoptosis

abnormal thymus cell ratio ( J:223992 )

• normal numbers of double positive and single positive thymocytes but increased DN3 double negative (CD4- CD8- CD25+ CD44-) and corresponding decrease in DN4 (CD25- CD44-) theymocytes

decreased thymus weight ( J:223992 )

• although normal thyumus weight at 10 and 20 days of age, when assessed between 56 and 146 days of age the thymus is slightly smaller than normal

decreased DN3 thymocyte number ( J:223992 )

increased DN4 thymocyte number ( J:223992 )

abnormal thymus cell ratio ( J:223992 )

• normal numbers of double positive and single positive thymocytes but increased DN3 double negative (CD4- CD8- CD25+ CD44-) and corresponding decrease in DN4 (CD25- CD44-) theymocytes

decreased thymus weight ( J:223992 )

• although normal thyumus weight at 10 and 20 days of age, when assessed between 56 and 146 days of age the thymus is slightly smaller than normal

decreased DN3 thymocyte number ( J:223992 )

increased DN4 thymocyte number ( J:223992 )

increased erythroblast number ( J:223992 )

• approximately 3 times the number of splenic erythroblasts as are found in wild-type controls

decreased susceptibility to diet-induced hepatic steatosis ( J:223992 )

• hepatic steatosis is less severe in hemizygotes than controls after being fed a high-fat diet

increased pancreatic alpha cell number ( J:223992 )

• hemizygotes have more glucagon-secreting alpha cells per islet even though the plasma glucagon levels are normal

abnormal thymus cell ratio ( J:223992 )

• normal numbers of double positive and single positive thymocytes but increased DN3 double negative (CD4- CD8- CD25+ CD44-) and corresponding decrease in DN4 (CD25- CD44-) theymocytes

decreased thymus weight ( J:223992 )

• although normal thyumus weight at 10 and 20 days of age, when assessed between 56 and 146 days of age the thymus is slightly smaller than normal

decreased DN3 thymocyte number ( J:223992 )

increased DN4 thymocyte number ( J:223992 )

abnormal seminiferous tubule epithelium morphology ( J:226675 )

• disorganized seminiferous epithelium is found at 80 days of age, including vacuolization, germ cell loss, Sertoli-cells-only tubules and interstitium hyperplasia

increased Sertoli cell number ( J:223992 )

• increased number of Sertoli cells per tubule at 2 months of age, but by 6 months of age this is no longer found

increased Leydig cell number ( J:223992 )

• increased number of interstitial Leydi cells

decreased testis weight ( J:223992 , J:226675 )

• although the testicular histology is normal until 10 days of age, adult hemizygotes have a much lower testicular size and mass, 0.023g versus 0.123g in controls (J:223992)

• although hemizyous males have normal sexual behavior and external genitalia, adult testes assessed at 80 days of age have an approximately 80% lower weight than normal and lack spermatozoa (J:226675)

abnormal circulating hormone level ( J:223992 )

• at 3 to 4 months of age hemizygotes show decreased plasma corticosterone, and increased plasma FSH and testosterone

increased circulating testosterone level ( J:223992 )

decreased circulating corticosterone level ( J:223992 )

increased circulating follicle stimulating hormone level ( J:223992 )

increased circulating insulin level ( J:223992 )

• more than twice normal levels of plasma insulin under normal feeding conditions, but normal plasma glucose levels

abnormal glucose homeostasis ( J:223992 )

• fasted and re-fed hemizygotes both show normal plasma insulin levels an no impairment in the glucose and insulin tolerance test, but the recovery of plasma glucose concentration is slowed

abnormal ion homeostasis ( J:223992 )

increased circulating potassium level ( J:223992 )

• hemizygous males have increased plasma potassium levels (5.9 mmol/L) compared with controls (5.5 mmol/L), but after 10 days on a sodium-deprived diet plasma potassium levels are decreased compared with controls

abnormal circulating sodium level ( J:223992 )

• although reasonably normal on a standard diet, the plasma sodium levels are significantly higher than that of controls after 10 days on a sodium-deprived diet

increased male germ cell apoptosis ( J:226675 )

• at 5 days of age, during the mitotic phase, there is a 2-fold increase in spermatogonial apoptosis, and at 10 days of age, when preleptotene spermatocytes normally enter meiosis I, there is an approximately 3-fold increase in apoptosis

abnormal seminiferous tubule epithelium morphology ( J:226675 )

• disorganized seminiferous epithelium is found at 80 days of age, including vacuolization, germ cell loss, Sertoli-cells-only tubules and interstitium hyperplasia

increased Sertoli cell number ( J:223992 )

• increased number of Sertoli cells per tubule at 2 months of age, but by 6 months of age this is no longer found

increased Leydig cell number ( J:223992 )

• increased number of interstitial Leydi cells

decreased testis weight ( J:223992 , J:226675 )

• although the testicular histology is normal until 10 days of age, adult hemizygotes have a much lower testicular size and mass, 0.023g versus 0.123g in controls (J:223992)

• although hemizyous males have normal sexual behavior and external genitalia, adult testes assessed at 80 days of age have an approximately 80% lower weight than normal and lack spermatozoa (J:226675)

abnormal spermatogenesis ( J:226675 )

• although no defect in spermatogonial proliferation is found at 3, 5, or 10 days of age, spermatogenic failure intrinsic to germ cells is first seen at 5 days of age when there is a 2-fold increase in spermatogonial apoptosis and germ cell disorganization, and at 10 days of age apoptosis increases to approximately 3-fold more than normal, Sertoli cell cytoplasmic extensions and vacuolizations become apparent and there is deficient germ cell migration to the base of the epithelium

• with some adult seminiferous tubules still containing germ cells at the spermatogonial and early meiotic stages, the germ cell loss appears less severe than that found in Tsc22d3^tm1.1Rlc hemizygotes

azoospermia ( J:223992 , J:226675 )

• in 2 to 6 month old hemizygotes no germ cells or mature spermatozoa are found (J:223992)

• at 80 days of age no spermatozoa are found in the testes (J:226675)

• at 21 days of age no round spermatids are found in the seminiferous epithelium and there are many pycnotic germ cells (J:226675)

arrest of spermatogenesis ( J:226675 )

arrest of male meiosis ( J:226675 )

• failed meiotic progression with defects in early meiosis I, with preleptotene, leptotene, and zygotene stages found at 12 days of age, but few pachytene spermatocytes indicating that arrest occurs at mid-late zygotene

• high levels of asynapsis is found in leptotene and zygotene spermatocytes assessed at 12 days of age

male infertility ( J:223992 , J:226675 )

• hemizygous males are completely sterile (J:223992)

(J:226675)

decreased body weight ( J:223992 )

• although born with a normal body weight and weight gain proceeds normally until approximately 6 months of age, weight gain then slows down compared with that of controls

• after 18 weeks on a high-fat diet hemizygotes have lower weight and body fat content that controls

decreased percent body fat/body weight ( J:223992 )

• at 15 months of age the amount of body fat is significantly reduced compared to controls

abnormal adipose tissue physiology ( J:223992 )

• mature adipocytes fail to accumulate lipids normally and this is more evident when fed a high-fat diet

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

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

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

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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