Phenotypes associated with this allele

• Allele Symbol: Cav2^tm1Mls
• Allele Name: targeted mutation 1, Michael P Lisanti
• Allele ID: MGI:2180372
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cav2^tm1Mls/Cav2^tm1Mls	involves: 129/Sv * C57BL/6J * SJL	MGI:2659186

Genotype
MGI:2659186

hm1

• Allelic Composition: Cav2^tm1Mls/Cav2^tm1Mls
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL

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

respiratory system

abnormal lung morphology ( J:75490 )

• at 4-5 months of age, homozygotes display a severe lung pathology, including parenchymal hypercellularity, alveolar constriction, and septal thickening, similar to age- and sex-matched Cav1^tm1Mls homozygotes

• homozygotes display a significant increase in the number of lung endothelial cells, comparable to that observed in Cav1^tm1Mls homozygotes

• in addition, mutant lungs display increased reticulin staining suggesting a reactive deposition or reorganization of the basement membrane, but no fibrosis

abnormal pulmonary alveolus morphology ( J:75490 )

• at 4-5 months of age, homozygotes display significantly smaller or constricted alveolar spaces

thick pulmonary interalveolar septum ( J:75490 )

• at 4-5 months of age, homozygotes exhibit thickening of the alveolar septum

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:75490 )

N • unlike Cav1^tm1Mls mice, 3-month old homozygotes are not dyslipidemic and show normal plasma levels of glucose, cholesterol, triglycerides, and free fatty acids in both fasted and postprandial states

impaired exercise endurance ( J:75490 )

• similar to Cav1^tm1Mls mice, homozygotes display severe exercise intolerance and are able to swim for only ~8 to 12 min whereas wild-type littermates can swim for up to ~40 min

cellular

cellular phenotype ( J:75490 , J:117199 )

N • despite a ~2-fold reduction in caveolin-1 expression in lung and heart but not adipose tissue, homozygotes display normal caveolin-1 protein trafficking, and normal formation of caveolae in perigonadal adipocytes and lung endothelial cells relative to wild-type littermates (J:75490)

N • no loss of caveolae as seen in Cav1^tm1Mls mice (J:117199)

abnormal basement membrane morphology ( J:75490 )

• however, no changes in collagen deposition are identified by trichrome staining

• mutant lungs exhibit a significant increase in basement membrane deposition, as identified by reticulin staining

growth/size/body

growth/size/body region phenotype ( J:75490 )

N • unlike Cav1^tm1Mls mice, 12-month old homozygotes have normal body weights and do not display increased resistance to diet-induced obesity

adipose tissue

adipose tissue phenotype ( J:75490 )

N • unlike Cav1^tm1Mls mice, 12-month old homozygotes display normal adipose tissue morphology, as shown in perigonadal, mammary gland, and hypodermal fat pads

cardiovascular system

cardiovascular system phenotype ( J:75490 )

N • unlike Cav1^tm1Mls mice, homozygotes display normal nitric oxide-dependent modulation of aortic contraction with no significant differences in the vasoconstrictive and vasodilatory responses to phenylephrine and acetylcholine, respectively, relative to wild-type mice

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:120010 )

N • unlike Cav1^tm1Mls mice, females exhibit normal lobuloalveolar development of the mammary glands during pregnancy

muscle

abnormal skeletal muscle fiber morphology ( J:117199 )

• skeletal muscle fibers of males exhibit an accelerated development of and an increase in the frequency and size of tubular aggregate formation with age

• sarcoplasmic reticulum is dilated in skeletal muscle of males

• skeletal muscle of males contains large mitochondrial aggregates at 3 and 8 months of age; these aggregates often disrupt the organization of the sarcomere, however mitochondria appear to function properly

increased skeletal muscle fiber size ( J:117199 )

• cross-sectional area of the skeletal muscle fibers is significantly enlarged in males

increased satellite cell number ( J:117199 )

• skeletal muscle of males display a 37-40% increase in the number of satellite cells

abnormal muscle regeneration ( J:117199 )

• in response to a myotoxic substance, notexin, skeletal muscle satellite cells display a delay in the regeneration process

behavior/neurological

impaired exercise endurance ( J:75490 )

• similar to Cav1^tm1Mls mice, homozygotes display severe exercise intolerance and are able to swim for only ~8 to 12 min whereas wild-type littermates can swim for up to ~40 min