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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tsc22d3tm1.2Hum
targeted mutation 1.2, Edith Hummler
MGI:5698178
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tsc22d3tm1.2Hum/Tsc22d3tm1.2Hum involves: 129S1/SvImJ MGI:5700159
ht2
Tsc22d3tm1.2Hum/Tsc22d3+ involves: 129S1/SvImJ MGI:5698236
ot3
Tsc22d3tm1.2Hum/Y involves: 129S1/SvImJ MGI:5698212


Genotype
MGI:5700159
hm1
Allelic
Composition
Tsc22d3tm1.2Hum/Tsc22d3tm1.2Hum
Genetic
Background
involves: 129S1/SvImJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc22d3tm1.2Hum mutation (0 available); any Tsc22d3 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• homozygous null females are viable and fertile, exhibit normal estrous cyclicity, oocyte development and maturation, parturition frequency and litter size




Genotype
MGI:5698236
ht2
Allelic
Composition
Tsc22d3tm1.2Hum/Tsc22d3+
Genetic
Background
involves: 129S1/SvImJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc22d3tm1.2Hum mutation (0 available); any Tsc22d3 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• heterozgyous females bred to wild-type males produce normal litter size with the expected percentage of carrier and wild-type offspring




Genotype
MGI:5698212
ot3
Allelic
Composition
Tsc22d3tm1.2Hum/Y
Genetic
Background
involves: 129S1/SvImJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc22d3tm1.2Hum mutation (0 available); any Tsc22d3 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 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)
• 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
• 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

immune system
• 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
• 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

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

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

endocrine/exocrine glands
• hemizygotes have more glucagon-secreting alpha cells per islet even though the plasma glucagon levels are normal
• 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
• 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
• disorganized seminiferous epithelium is found at 80 days of age, including vacuolization, germ cell loss, Sertoli-cells-only tubules and interstitium hyperplasia
• increased number of Sertoli cells per tubule at 2 months of age, but by 6 months of age this is no longer found
• increased number of interstitial Leydi cells
• 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)

homeostasis/metabolism
• at 3 to 4 months of age hemizygotes show decreased plasma corticosterone, and increased plasma FSH and testosterone
• more than twice normal levels of plasma insulin under normal feeding conditions, but normal plasma glucose levels
• 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
• 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
• 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

reproductive system
• 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
• disorganized seminiferous epithelium is found at 80 days of age, including vacuolization, germ cell loss, Sertoli-cells-only tubules and interstitium hyperplasia
• increased number of Sertoli cells per tubule at 2 months of age, but by 6 months of age this is no longer found
• increased number of interstitial Leydi cells
• 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)
• 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 Tsc22d3tm1.1Rlc hemizygotes
• 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)
• 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
• hemizygous males are completely sterile (J:223992)
(J:226675)

growth/size/body
• 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

adipose tissue
• at 15 months of age the amount of body fat is significantly reduced compared to controls
• mature adipocytes fail to accumulate lipids normally and this is more evident when fed a high-fat diet





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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory