Phenotypes associated with this allele

• Allele Symbol: Ppp1r12a^tm1Mzhu
• Allele Name: targeted mutation 1, Min-Sheng Zhu
• Allele ID: MGI:5559675
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ppp1r12a^tm1Mzhu/Ppp1r12a^tm1Mzhu Tg(Acta2-cre)#Xya/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:5559689

Genotype
MGI:5559689

cn1

• Allelic Composition: Ppp1r12a^tm1Mzhu/Ppp1r12a^tm1Mzhu; Tg(Acta2-cre)#Xya/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

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

mortality/aging

premature death ( J:207752 )

♂ • some male mice die of uroschesis at 12 to 15 months

digestive/alimentary system

digestive/alimentary phenotype ( J:207752 )

N • at 16 weeks, mice exhibit normal bowel motility and eating and defecation functions

abnormal interstitial cell of Cajal morphology ( J:207752 )

• gradual disruption with age

abnormal intestine morphology ( J:207752 )

• dilated at 8 months resulting in cecum transposition

abnormal small intestine morphology ( J:207752 )

• infiltration of inflammatory cells in the mucosal lamina propria and subglandular area at 8 months

enlarged duodenum ( J:207752 )

• enlarged lumen diameter at 8 months

abnormal ileum morphology ( J:207752 )

• increased ileal muscle layer at 8 months

enlarged ileum ( J:207752 )

• enlarged lumen diameter at 8 months

abnormal jejunum morphology ( J:207752 )

• enlarged lumen diameter at 8 months

enlarged stomach ( J:207752 )

• at 8 months

intestinal hypoperistalsis ( J:207752 )

• gradual impairment starting at 4 weeks

small intestinal inflammation ( J:207752 )

• infiltration of inflammatory cells in the mucosal lamina propria and subglandular area at 8 months

muscle

abnormal smooth muscle morphology ( J:207752 )

• increased calcium sensitivity

abnormal muscle contractility ( J:207752 )

• enhanced developed forces of jejunum or ileum smooth muscle in response to KCl and/or acetylcholine

• enhanced contraction of the bladder, portal vein and small arteries from the mesentery in response to KCl

• modified contractile properties of permeable smooth muscles following calcium-mediated activation

• jejunum and ileum muscle strips exhibit reduced shortening velocity during the initial phase of contraction compared with control muscle strips

• abnormal contractile properties of isolated smooth muscle cells

intestinal hypoperistalsis ( J:207752 )

• gradual impairment starting at 4 weeks

abnormal muscle electrophysiology ( J:207752 )

• arrhythmic activities without typical spike potentials in intestinal smooth muscles

renal/urinary system

enlarged urinary bladder ( J:207752 )

♂ • enlarged diameter with thinner muscle layer thickness in male mice

ischuria ( J:207752 )

• some male mice die of uroschesis at 12 to 15 months

• retention of urine in the bladder at 8 month

cardiovascular system

increased systemic arterial systolic blood pressure ( J:207752 )

growth/size/body

distended abdomen ( J:207752 )

• protruding lower abdomen in male mice at 6 months

• distended alimentary tract at 8 month

enlarged urinary bladder ( J:207752 )

♂ • enlarged diameter with thinner muscle layer thickness in male mice

immune system

small intestinal inflammation ( J:207752 )

• infiltration of inflammatory cells in the mucosal lamina propria and subglandular area at 8 months