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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cavin1tm1Pfp
targeted mutation 1, Paul F Pilch
MGI:3829005
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cavin1tm1Pfp/Cavin1tm1Pfp B6.129S6-Cavin1tm1Pfp/J MGI:5614325
hm2
Cavin1tm1Pfp/Cavin1tm1Pfp involves: 129S6/SvEvTac * C57BL/6 MGI:3829009


Genotype
MGI:5614325
hm1
Allelic
Composition
Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic
Background
B6.129S6-Cavin1tm1Pfp/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cavin1tm1Pfp mutation (1 available); any Cavin1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

mortality/aging
• 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
• 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
• complete lack of caveolae in the detrusor smooth muscle
• 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
• complete lack of caveolae in the detrusor smooth muscle
• 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
• 18 week old males, but not females, exhibit an increase in bladder weight

cardiovascular system
• mice exhibit hypertrophic remodeling of pulmonary arteries
• airway associated vessels show increased media thickness in blood vessels smaller than 100 um

cellular
• 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
• modest overall increase in lung tissue density
• lung exhibits an increase in granularity in cells
• however, newborn lungs do not exhibit any structural defects
• 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
Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cavin1tm1Pfp mutation (1 available); any Cavin1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at weaning

homeostasis/metabolism
• serum leptin and adiponectin levels are lower than in wild-type mice
• mice display a lower resting metabolic rate compared to wild-type mice

growth/size/body
• mice are leaner than wild-type mice

cellular
• in lung epithelium and skeletal muscle (J:143425)
• absence of caveolae in microvascular endothelia (J:205741)

behavior/neurological

cardiovascular system
• absence of caveolae in microvascular endothelia
• gaps in the lung capillary

respiratory system
• 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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory