Phenotypes associated with this allele

• Allele Symbol: Cavin1^tm1Pfp
• Allele Name: targeted mutation 1, Paul F Pilch
• Allele ID: MGI:3829005
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cavin1^tm1Pfp/Cavin1^tm1Pfp	B6.129S6-Cavin1^tm1Pfp/J	MGI:5614325
hm2	Cavin1^tm1Pfp/Cavin1^tm1Pfp	involves: 129S6/SvEvTac * C57BL/6	MGI:3829009

Genotype
MGI:5614325

hm1

• Allelic Composition: Cavin1^tm1Pfp/Cavin1^tm1Pfp
• Genetic Background: B6.129S6-Cavin1^tm1Pfp/J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:217273 )

• fewer than the expected numbers (9%) of homozygotes are seen from heterozygous crosses and dead mice are sporadically found shortly after birth, indicating perinatal/prenatal lethality

prenatal lethality, incomplete penetrance ( J:217273 )

• fewer than the expected numbers (9%) of homozygotes are seen from heterozygous crosses and dead mice are sporadically found shortly after birth, indicating perinatal/prenatal lethality

muscle

abnormal urinary bladder detrusor smooth muscle morphology ( J:217273 )

• complete lack of caveolae in the detrusor smooth muscle

impaired contractility of urinary bladder detrusor smooth muscle ( J:217273 )

• detrusor smooth muscle shows reduced active force in response to depolarization but has preserved passive elastic properties

• neurogenic detrusor activation is impaired, with the cholinergic component of activation reduced at intermediate stimulation frequencies and the purinergic component of activation reduced at higher stimulation frequencies

• contractility (force and stress) in response to muscarinic receptor activation via carbachol is reduced

• however, micturition patters are similar to wild-type

renal/urinary system

abnormal urinary bladder detrusor smooth muscle morphology ( J:217273 )

• complete lack of caveolae in the detrusor smooth muscle

impaired contractility of urinary bladder detrusor smooth muscle ( J:217273 )

• detrusor smooth muscle shows reduced active force in response to depolarization but has preserved passive elastic properties

• neurogenic detrusor activation is impaired, with the cholinergic component of activation reduced at intermediate stimulation frequencies and the purinergic component of activation reduced at higher stimulation frequencies

• contractility (force and stress) in response to muscarinic receptor activation via carbachol is reduced

• however, micturition patters are similar to wild-type

increased urinary bladder weight ( J:217273 )

♂ • 18 week old males, but not females, exhibit an increase in bladder weight

cardiovascular system

abnormal lung vasculature morphology ( J:217258 )

• mice exhibit hypertrophic remodeling of pulmonary arteries

• airway associated vessels show increased media thickness in blood vessels smaller than 100 um

increased heart right ventricle weight ( J:217258 )

increased right ventricle systolic pressure ( J:217258 )

pulmonary hypertension ( J:217258 )

cellular

absent caveolae ( J:217258 , J:217273 )

• lack caveolae in alveolar type 1 cells and in lung endothelial cells (J:217258)

• complete lack of caveolae in the detrusor smooth muscle (J:217273)

respiratory system

abnormal lung morphology ( J:217258 )

• modest overall increase in lung tissue density

• lung exhibits an increase in granularity in cells

• however, newborn lungs do not exhibit any structural defects

abnormal lung vasculature morphology ( J:217258 )

• mice exhibit hypertrophic remodeling of pulmonary arteries

• airway associated vessels show increased media thickness in blood vessels smaller than 100 um

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary hypertension		DOID:6432		J:217258

Genotype
MGI:3829009

hm2

• Allelic Composition: Cavin1^tm1Pfp/Cavin1^tm1Pfp
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

mortality/aging

preweaning lethality, incomplete penetrance ( J:205741 )

• fewer than expected mice are present at weaning

homeostasis/metabolism

abnormal circulating hormone level ( J:143425 )

increased circulating insulin level ( J:143425 )

decreased circulating leptin level ( J:143425 )

• serum leptin and adiponectin levels are lower than in wild-type mice

abnormal circulating lipid level ( J:143425 )

increased circulating free fatty acids level ( J:143425 )

increased circulating triglyceride level ( J:143425 )

hyperlipidemia ( J:143425 )

impaired glucose tolerance ( J:143425 )

insulin resistance ( J:143425 )

decreased basal metabolism ( J:143425 )

• mice display a lower resting metabolic rate compared to wild-type mice

growth/size/body

increased lean body mass ( J:143425 )

• mice are leaner than wild-type mice

cellular

absent caveolae ( J:143425 , J:205741 )

• in lung epithelium and skeletal muscle (J:143425)

• absence of caveolae in microvascular endothelia (J:205741)

behavior/neurological

decreased locomotor activity ( J:143425 )

cardiovascular system

abnormal vascular endothelial cell morphology ( J:205741 )

• absence of caveolae in microvascular endothelia

abnormal lung vasculature morphology ( J:205741 )

• gaps in the lung capillary

respiratory system

abnormal lung vasculature morphology ( J:205741 )

• gaps in the lung capillary

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital generalized lipodystrophy type 4		DOID:0111138	OMIM:613327	J:150419