Phenotypes associated with this allele

• Allele Symbol: Iqgap2^tm1Vs
• Allele Name: targeted mutation 1, Valentina A Schmidt
• Allele ID: MGI:3526416
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Iqgap2^tm1Vs/Iqgap2^tm1Vs	either: 129S4/SvJae-Iqgap2^tm1Vs or B6.129S4-Iqgap2^tm1Vs	MGI:3777246
hm2	Iqgap2^tm1Vs/Iqgap2^tm1Vs	involves: 129S4/SvJae	MGI:5568837
cx3	Iqgap1^tm1Aber/Iqgap1^tm1Aber Iqgap2^tm1Vs/Iqgap2^tm1Vs	involves: 129S4/SvJae	MGI:3777247

Genotype
MGI:3777246

hm1

• Allelic Composition: Iqgap2^tm1Vs/Iqgap2^tm1Vs
• Genetic Background: either: 129S4/SvJae-Iqgap2^tm1Vs or B6.129S4-Iqgap2^tm1Vs

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

mortality/aging

premature death ( J:132670 )

• progressive increase in death rate with age

• separation of survival curve from that of controls is first significant at 200 days after birth

liver/biliary system

abnormal hepatocyte mitochondrial morphology ( J:132670 )

• at 8 and 12 months, edematous mitochondrial matrix is seen in liver cells but not in skeletal muscle cells

increased hepatocyte apoptosis ( J:132670 )

• gradual and progressive increase in apoptosis at 4 and 8 months of age

decreased hepatocyte number ( J:132670 )

• significant hepatocyte loss by 8 months of age

increased hepatocellular carcinoma incidence ( J:132670 )

• develops in mice over 12 months of age

• at 18 - 24 months of age 86% of mice had hepatocellular carcinomas

• associated with an increase in Iqgap1 expression

neoplasm

increased hepatocellular carcinoma incidence ( J:132670 )

• develops in mice over 12 months of age

• at 18 - 24 months of age 86% of mice had hepatocellular carcinomas

• associated with an increase in Iqgap1 expression

increased hemangioma incidence ( J:132670 )

• occasional uterine hemangiomas are detected

homeostasis/metabolism

increased circulating aspartate transaminase level ( J:132670 )

• at 8 months of age

• however, bilirubin, alanine aminotransferase, and creatine phosphokinase levels are not different from wild-type controls at 8 months of age

cellular

abnormal hepatocyte mitochondrial morphology ( J:132670 )

• at 8 and 12 months, edematous mitochondrial matrix is seen in liver cells but not in skeletal muscle cells

increased hepatocyte apoptosis ( J:132670 )

• gradual and progressive increase in apoptosis at 4 and 8 months of age

Genotype
MGI:5568837

hm2

• Allelic Composition: Iqgap2^tm1Vs/Iqgap2^tm1Vs
• Genetic Background: involves: 129S4/SvJae

neoplasm

increased hepatocellular carcinoma incidence ( J:205882 )

• mice develop hepatocellular carcinoma that recapitulates molecular features of advanced human hepatocellular carcinoma

liver/biliary system

increased hepatocellular carcinoma incidence ( J:205882 )

• mice develop hepatocellular carcinoma that recapitulates molecular features of advanced human hepatocellular carcinoma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hepatocellular carcinoma		DOID:684	OMIM:114550	J:205882

Genotype
MGI:3777247

cx3

• Allelic Composition: Iqgap1^tm1Aber/Iqgap1^tm1Aber; Iqgap2^tm1Vs/Iqgap2^tm1Vs
• Genetic Background: involves: 129S4/SvJae

liver/biliary system

increased hepatocellular carcinoma incidence ( J:132670 )

• incidence is decreased compared to Iqgap1^tm1Vs single homozygotes but is increased compared to controls

mortality/aging

mortality/aging ( J:132670 )

N • unlike Iqgap1^tm1Vs single homozygotes, survival durations are not significantly different from controls

neoplasm

increased hepatocellular carcinoma incidence ( J:132670 )

• incidence is decreased compared to Iqgap1^tm1Vs single homozygotes but is increased compared to controls

decreased tumor growth/size ( J:132670 )

• when present hepatocellular carcinomas are smaller than those in Iqgap1^tm1Vs single homozygotes

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:132670 )

N • unlike Iqgap2^tm1Vs single homozygotes, levels of aspartate transaminase are similar to controls in mice at 4 and 8 months of age