Phenotypes associated with this allele

• Allele Symbol: Slc2a2^tm1Thor
• Allele Name: targeted mutation 1, Bernard Thorens
• Allele ID: MGI:2181752
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc2a2^tm1Thor/Slc2a2^tm1Thor	involves: 129P2/OlaHsd * C57BL/6J	MGI:3029380
cx2	Slc2a2^tm1Thor/Slc2a2^tm1Thor Tg(Ins1-SLC2A1)1Thor/0	involves: 129P2/OlaHsd * C57BL/6	MGI:4818917
cx3	Slc2a2^tm1Thor/Slc2a2^+ Tg(Ins1-SLC2A1)1Thor/0	involves: 129P2/OlaHsd * C57BL/6	MGI:4818918

Genotype
MGI:3029380

hm1

• Allelic Composition: Slc2a2^tm1Thor/Slc2a2^tm1Thor
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:43839 )

• died at 2-3 weeks of age

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:43839 )

increased pancreatic alpha cell mass ( J:43839 )

• volume density increased 50% as glucagon expression increased

decreased pancreatic beta cell mass ( J:43839 )

• volume density of beta cells decreased 30%

decreased pancreas weight ( J:43839 )

• pancreas weight dropped about 25% by day 15

growth/size/body

decreased body weight ( J:43839 )

• growth was normal for first 6 days

• failed to thrive thereafter

• body weight down 35% by day 15

homeostasis/metabolism

increased blood osmolality ( J:43839 )

• blood osmolality increased to 420 mosmol/l

abnormal glucose homeostasis ( J:43839 )

hyperglycemia ( J:43839 )

• moderately hyperglycemic at day 15

increased circulating glucagon level ( J:43839 )

• glucagons levels were markedly increased at 15 days of age

decreased circulating insulin level ( J:43839 )

• relatively hypoinsulinemic at day 15

• glucose stimulated insulin secretion did not occur

• no buildup of insulin mRNA in beta cells

abnormal glucose tolerance ( J:43839 )

• in an oral glucose tolerance test, a sharp rise in glucose occurred

• hyperglycemia persisted longer than in controls

• basal glucose levels were elevated

abnormal lipid homeostasis ( J:43839 )

increased fatty acids level ( J:43839 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
type 2 diabetes mellitus		DOID:9352	OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036	J:43839

Genotype
MGI:4818917

cx2

• Allelic Composition: Slc2a2^tm1Thor/Slc2a2^tm1Thor; Tg(Ins1-SLC2A1)1Thor/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

mortality/aging ( J:162050 )

N • expression of transgene prevents early lethality observed in Slc2a2^tm1Thor homozygous non-transgenic mice

growth/size/body

growth/size/body region phenotype ( J:162050 )

N • body weight and composition are identical to wild-type controls at 12-16 weeks

homeostasis/metabolism

impaired adaptive thermogenesis ( J:162050 )

• during 24 h of food deprivation, body temperature decreases significantly compared to wild-type controls at end of dark period as mice enter torpor

• when exposed continuously to low temperature (4 degrees C), mutants show reduced ability to regulate and maintain body temperature compared to controls

• when mice are deprived of food for 6 h and receive intracerebroventricular injections of 2-deoxyglucose (0.5 mg, 1.5 mg or 2.5 mg), no significant decrease in body temperature is observed compared to wild-type controls at the lowest dose after 2 hours; at the median dose, a significant difference is seen at 2 hours but is less significant than controls; at the highest dose, temperature decrease is similar to that observed in controls

behavior/neurological

decreased locomotor activity ( J:162050 )

• at end of dark period, mutants show less locomotor acitivity compared to controls as they enter torpor during 24 h of food deprivation

• when exposed continuously to low temperature (4 degrees C), mutants and wild-type controls display similar locomotor activity

Genotype
MGI:4818918

cx3

• Allelic Composition: Slc2a2^tm1Thor/Slc2a2⁺; Tg(Ins1-SLC2A1)1Thor/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

growth/size/body

growth/size/body region phenotype ( J:162050 )

N • body weight and composition are identical to controls at 12-16 weeks

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:162050 )

N • during 24 h of food deprivation, body temperature is similar to wild-type controls and does not drop as significantly as Slc2a2 homozygous transgenics

N • responses to intracerebroventricular injections of 2-deoxyglucose (0.5 mg, 1.5 mg or 2.5 mg) are similar to controls

behavior/neurological

behavior/neurological phenotype ( J:162050 )

N • during 24 h of food deprivation, locomotor activity remains similar to wild-type controls