Phenotypes associated with this allele

• Allele Symbol: Tsc2^tm2.2Djk
• Allele Name: targeted mutation 2.2, David J Kwiatkowski
• Allele ID: MGI:4354601
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tsc2^tm2.2Djk/Tsc2^tm2.2Djk	involves: 129S4/SvJae * C57BL/6	MGI:4358056
ht2	Tsc2^tm2.2Djk/Tsc2^+	involves: 129S4/SvJae * C57BL/6	MGI:4358058

Genotype
MGI:4358056

hm1

• Allelic Composition: Tsc2^tm2.2Djk/Tsc2^tm2.2Djk
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:149326 )

• embryos appeared to be fully viable through E13.5, occurring in Mendelian ratios with little embryonic loss, but were not viable at E14.5 or later

• the timing of embryonic death for Tsc2^tm2.2Djk homozygous embryos was significantly later than that seen in Tsc2^tm1Djk homozygous embryos

embryo

embryonic growth retardation ( J:149326 )

• E13.5 embryos were 0.5?1 mm smaller and developmentally retarded by 1?2 Theiler stages

abnormal embryonic hematopoiesis ( J:149326 )

• livers from homozygous embryos had an abnormal architecture, with regions of necrosis and apoptosis near hematopoietic islands

• increased numbers of immature blood cells were seen in vascular channels in the homozygous embryos

growth/size/body

embryonic growth retardation ( J:149326 )

• E13.5 embryos were 0.5?1 mm smaller and developmentally retarded by 1?2 Theiler stages

cardiovascular system

abnormal vascular development ( J:149326 )

• blood vessels of the cutaneous tissues, brain and cardiac regions all appeared larger and to have aberrant branching morphology

dilated vasculature ( J:149326 )

• blood vessels of the cutaneous tissues, brain and cardiac regions all appeared larger and to have aberrant branching morphology

internal hemorrhage ( J:149326 )

• evidence of hemorrhage at multiple sites, including liver, brain and heart at E13.5

• hemorrhage was seen in the same areas as the dilated blood vessels

• placental vasculature and structure appeared to be normal

liver/biliary system

liver hypoplasia ( J:149326 )

• the liver of homozygous embryos was much smaller in comparison with control littermates

hematopoietic system

abnormal embryonic hematopoiesis ( J:149326 )

• livers from homozygous embryos had an abnormal architecture, with regions of necrosis and apoptosis near hematopoietic islands

• increased numbers of immature blood cells were seen in vascular channels in the homozygous embryos

cellular

increased apoptosis ( J:149326 )

• apoptosis was seen in the liver and near regions of hemorrhage in E13.5 embryos

nervous system

nervous system phenotype ( J:149326 )

N • nervous system development appeared normal

Genotype
MGI:4358058

ht2

• Allelic Composition: Tsc2^tm2.2Djk/Tsc2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

neoplasm

increased renal cystadenoma incidence ( J:149326 )

• both gross and microscopic tumor scores were markedly reduced in the Tsc2^tm2.2Djk mice compared with the Tsc2^tm1Djk mice

• the percent cellularity of the lesions was also reduced in the Tsc2^tm2.2Djk mice compared with the Tsc2^tm1Djk mice

• qualitatively, the tumors from the Tsc2^tm2.2Djk mice were obviously smaller in size and growth appearance compared with the Tsc2^tm1Djk mice

• at age 18 months tumors from Tsc2^tm2.2Djk mice became comparable to those seen in the Tsc2^tm1Djk mice at age 12 months

renal/urinary system

increased renal cystadenoma incidence ( J:149326 )

• both gross and microscopic tumor scores were markedly reduced in the Tsc2^tm2.2Djk mice compared with the Tsc2^tm1Djk mice

• the percent cellularity of the lesions was also reduced in the Tsc2^tm2.2Djk mice compared with the Tsc2^tm1Djk mice

• qualitatively, the tumors from the Tsc2^tm2.2Djk mice were obviously smaller in size and growth appearance compared with the Tsc2^tm1Djk mice

• at age 18 months tumors from Tsc2^tm2.2Djk mice became comparable to those seen in the Tsc2^tm1Djk mice at age 12 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:149326