Phenotypes Associated with This Genotype

Genotype
MGI:5009694

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.1Pcn; Tg(Myh11-cre,-EGFP)2Mik/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:172661 )

• fewer than expected mice are present at P10 due to cardiopulmonary defects

digestive/alimentary system

abnormal intestinal smooth muscle morphology ( J:172661 )

• smooth muscle cells are disorganized in the colon compared to in wild-type mice

enlarged cecum ( J:172661 )

decreased colon length ( J:172661 )

• in neonates, the colon is shorter than in wild-type mice

megacolon ( J:172661 )

abnormal small intestine morphology ( J:172661 )

• mice exhibit enlarged ileum and jejunum compared with wild-type mice

enlarged ileum ( J:172661 )

• mice exhibit enlarged ileum compared with wild-type mice

abnormal jejunum morphology ( J:172661 )

• mice exhibit enlarged jejunum compared with wild-type mice

decreased small intestine length ( J:172661 )

• in neonates, the small intestines are shorter than in wild-type mice

muscle

abnormal intestinal smooth muscle morphology ( J:172661 )

• smooth muscle cells are disorganized in the colon compared to in wild-type mice

abnormal muscle physiology ( J:172661 )

• in neonates, smooth muscle cell apoptosis in the proximal and distal colon is increased compared to in wild-type mice

impaired smooth muscle contractility ( J:172661 )

• in response to KCl or carbachol, colonic rings exhibit impaired contractility compared with wild-type tissue

cardiovascular system

patent ductus arteriosus ( J:172661 )

• in cyanotic mice

ventricular septal defect ( J:172661 )

• in cyanotic mice

dilated heart ( J:172661 )

• in 6 of 18 mice at P0 to P2

abnormal pulmonary circulation ( J:172661 )

• lungs are hyperemic with accumulation of eosinophilic lipoproteinaceous material in the alveolar air space compared to in wild-type mice

congestive heart failure ( J:172661 )

respiratory system

abnormal pulmonary circulation ( J:172661 )

• lungs are hyperemic with accumulation of eosinophilic lipoproteinaceous material in the alveolar air space compared to in wild-type mice

pulmonary alveolar proteinosis ( J:172661 )

primary atelectasis ( J:172661 )

• in cyanotic mice

homeostasis/metabolism

cyanosis ( J:172661 )

• in 6 of 18 mice at P0 to P2

pulmonary alveolar proteinosis ( J:172661 )

cellular

patent ductus arteriosus ( J:172661 )

• in cyanotic mice