All Phenotypes Insr<tm1Jja> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Insr^tm1Jja/Insr^tm1Jja	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:2174961
cx2	Insr^tm1Jja/Insr^tm1Jja Tg(PAH-INSR)1Rjv/0	involves: 129S2/SvPas * C57BL/6 * CBA * DBA/2	MGI:4410518

Allelic Composition	Insr^tm1Jja/Insr^tm1Jja
Genetic Background	involves: 129S2/SvPas * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Insr^tm1Jja mutation (0 available); any Insr mutation (95 available)

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

mortality/aging

postnatal lethality ( J:80773 )

postnatal lethality, complete penetrance ( J:32538 )

• mice die within one week of birth

growth/size/body

decreased body weight ( J:32538 )

• homozygous animals weighed 30 - 40% less than controls

enlarged liver ( J:32538 )

homeostasis/metabolism

hyperglycemia ( J:32538 )

increased circulating insulin level ( J:32538 )

increased circulating free fatty acids level ( J:32538 )

• plasma fatty acid concentrations visibly elevated

increased circulating triglyceride level ( J:32538 )

• plasma triglyceride levels were 6 fold higher than controls

decreased liver glycogen level ( J:32538 )

• liver glycogen content could decrease 5 fold compared to controls

increased urine glucose level ( J:32538 )

ketoaciduria ( J:32538 , J:80773 )

• homozygous mice developed diabetic ketoacidosis, with glucose and ketone bodies in urine (J:32538)

liver/biliary system

enlarged liver ( J:32538 )

decreased liver glycogen level ( J:32538 )

• liver glycogen content could decrease 5 fold compared to controls

hepatic steatosis ( J:32538 , J:80773 )

• fatty infiltration of the liver was noted (J:32538)

muscle

skeletal muscle hypotrophy ( J:32538 )

• marked hypotrophy, apparent in days following birth

renal/urinary system

increased urine glucose level ( J:32538 )

ketoaciduria ( J:32538 , J:80773 )

• homozygous mice developed diabetic ketoacidosis, with glucose and ketone bodies in urine (J:32538)

adipose tissue

decreased total body fat amount ( J:80773 )

• reduction in adipose tissue

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Donohue syndrome	DOID:0050470	OMIM:246200	J:32538

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

mortality/aging

postnatal lethality, complete penetrance ( J:80773 )

• most mutants die within 1 week after birth, although survival is prolonged to 8-20 days in 10% of pups compared to single Insr homozygotes

adipose tissue

abnormal inguinal fat pad morphology ( J:80773 )

• adipose tissue in the inguinal region is underdeveloped in longer surviving pups

growth/size/body

decreased body size ( J:80773 )

• pups surviving 8-20 days are smaller

decreased body weight ( J:80773 )

• pups surviving 8-20 days weight 40-60% less than wild-type littermates at P10 and P17, respectively

homeostasis/metabolism

increased circulating glucose level ( J:80773 )

• pups with early diabetic ketoacidosis exhibit a 6-fold increase in serum glucose levels, however this level is less than in single Insr homozygotes

decreased liver glycogen level ( J:80773 )

• pups with early diabetic ketoacidosis exhibit extremely reduced hepatic glycogen levels

• however, pups with no ketoacidosis have almost normal glycogen levels

increased urine glucose level ( J:80773 )

• 26/240 pups exhibit glycosuria, however development is delayed by more than a week compared to single Insr homozygotes

increased triglyceride level ( J:80773 )

• pups with early diabetic ketoacidosis exhibit a 2.5-fold increase in triglyceride levels

ketoaciduria ( J:80773 )

• 26/240 pups develop ketoacidosis, although development is delayed by more than a week compared to single Insr homozygotes