Phenotypes associated with this allele

• Allele Symbol: Gpsm1^tm1.1Lajb
• Allele Name: targeted mutation 1.1, Stephen Lanier
• Allele ID: MGI:3807518
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gpsm1^tm1.1Lajb/Gpsm1^tm1.1Lajb	involves: 129S6/SvEvTac	MGI:5471142
hm2	Gpsm1^tm1.1Lajb/Gpsm1^tm1.1Lajb	involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL	MGI:3807520
cx3	Gpsm1^tm1.1Lajb/Gpsm1^tm1.1Lajb Pkd1^tm1.1Fqi/Pkd1^tm1.1Fqi	involves: 129S6/SvEvTac	MGI:5471136
cx4	Gpsm1^tm1.1Lajb/Gpsm1^+ Pkd1^tm1.1Fqi/Pkd1^tm1.1Fqi	involves: 129S6/SvEvTac	MGI:5471140

Genotype
MGI:5471142

hm1

• Allelic Composition: Gpsm1^tm1.1Lajb/Gpsm1^tm1.1Lajb
• Genetic Background: involves: 129S6/SvEvTac

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

renal/urinary system

renal/urinary system phenotype ( J:193175 )

N • mice exhibit normal kidney sizes and blood urea nitrogen levels and no evidence of cyst formation

Genotype
MGI:3807520

hm2

• Allelic Composition: Gpsm1^tm1.1Lajb/Gpsm1^tm1.1Lajb
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

growth/size/body

decreased body weight ( J:138126 )

• becomes apparent at 10 - 12 weeks of age

adipose tissue

decreased white adipose tissue amount ( J:138126 )

• apparent at 10 weeks of age

• by 5.5 months of age body fat is reduced by 6% compared to controls

behavior/neurological

abnormal eating behavior ( J:138126 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:138126 )

N • despite the reduction in body fat, serum glucose, total cholesterol and triglyceride levels are similar to controls

increased energy expenditure ( J:138126 )

• nocturnal, but not daytime, energy expenditure is increased by 30% compared to controls

• however, there is no apparent difference in locomotor activity compared to controls

cardiovascular system

cardiovascular system phenotype ( J:138126 )

N • despite differences in mean arterial pressure, heart rate and diurnal variation in heart rate are similar to controls

decreased mean systemic arterial blood pressure ( J:138126 )

• reduction in mean arterial pressure and diurnal variations in mean arterial pressure

increased vasodilation ( J:138126 )

• increased in sensitivity to the vasodilator sodium nitroprusside as indicted by impaired compensation following vasodilation

nervous system

nervous system phenotype ( J:138126 )

N • despite expression in the brain in wild-type mice, no obvious defects in brain morphology are detected at 3 weeks, 6 weeks or 6 months of age

abnormal baroreceptor physiology ( J:138126 )

• enhanced gain of the spontaneous baroreceptor reflex

muscle

increased vasodilation ( J:138126 )

• increased in sensitivity to the vasodilator sodium nitroprusside as indicted by impaired compensation following vasodilation

Genotype
MGI:5471136

cx3

• Allelic Composition: Gpsm1^tm1.1Lajb/Gpsm1^tm1.1Lajb; Pkd1^tm1.1Fqi/Pkd1^tm1.1Fqi
• Genetic Background: involves: 129S6/SvEvTac

homeostasis/metabolism

increased circulating creatinine level ( J:193175 )

• plasma creatinine is increased in mice compared to single Pkd1 homozygotes at P11-12

increased blood urea nitrogen level ( J:193175 )

• blood urea nitrogen is higher in mice compared to single Pkd1 homozygotes at P19

renal/urinary system

polycystic kidney ( J:193175 )

• mice exhibit an increase in cyst progression compared to single Pkd1 homozygotes

• proliferating cell nuclear antigen-positive renal cystic epithelial cells are higher than in single Pkd1 homozygous kidneys

enlarged kidney ( J:193175 )

• kidney-to-body weight ratio is higher than in single Pkd1 homozygotes or wild-type mice at P11-12

abnormal kidney physiology ( J:193175 )

• renal function is reduced in double mutants more than in single Pkd1 homozygotes as indicating by a larger increase in blood urea nitrogen and plasma creatinine levels

growth/size/body

polycystic kidney ( J:193175 )

• mice exhibit an increase in cyst progression compared to single Pkd1 homozygotes

• proliferating cell nuclear antigen-positive renal cystic epithelial cells are higher than in single Pkd1 homozygous kidneys

enlarged kidney ( J:193175 )

• kidney-to-body weight ratio is higher than in single Pkd1 homozygotes or wild-type mice at P11-12

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:193175

Genotype
MGI:5471140

cx4

• Allelic Composition: Gpsm1^tm1.1Lajb/Gpsm1⁺; Pkd1^tm1.1Fqi/Pkd1^tm1.1Fqi
• Genetic Background: involves: 129S6/SvEvTac

homeostasis/metabolism

increased blood urea nitrogen level ( J:193175 )

• blood urea nitrogen is higher than in wild-type mice but is increased to a similar extent as in single Pkd1 homozygotes

renal/urinary system

polycystic kidney ( J:193175 )

enlarged kidney ( J:193175 )

• kidney-to-body weight ratio is higher at P11-12 than in wild-type mice but similar to that in single Pkd1 homozygotes

growth/size/body

polycystic kidney ( J:193175 )

enlarged kidney ( J:193175 )

• kidney-to-body weight ratio is higher at P11-12 than in wild-type mice but similar to that in single Pkd1 homozygotes