Phenotypes Associated with This Genotype

Genotype
MGI:5614325

• 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