Phenotypes Associated with This Genotype

Genotype
MGI:7593773

• Allelic Composition: Actg2^em1Yiwan/Actg2⁺
• Genetic Background: involves: C57BL/6J

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

digestive/alimentary system

abnormal colon morphology ( J:344876 )

• significant dilation of colon

• however, length is normal

abnormal small intestine morphology ( J:344876 )

• significant dilation of the small intestine

• however, length is normal and intestine histology is normal, with no inflammation and normal enteric neuronal innervation

abnormal intestinal transit time ( J:344876 )

♂ • average total time of gastrointestinal transit is increased in 6-12-week-old males

abnormal intestine physiology ( J:344876 )

• primary intestinal smooth muscle cells show reduced cell contractility in collagen gel contraction experiments

renal/urinary system

distended urinary bladder ( J:344876 )

• bladder is dilated

• however, bladder histology appears normal

abnormal bladder urine volume ( J:344876 )

• maximum bladder volume is increased when bladder is injected with normal saline

oliguria ( J:344876 )

• mice exhibit dysfunctional urinary bladders, with a significant decrease in area of urine spots

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
megacystis-microcolon-intestinal hypoperistalsis syndrome		DOID:0060610	OMIM:155310	J:344876