Phenotypes Associated with This Genotype

Genotype
MGI:3584494

• Allelic Composition: Spry2^tm1Ayos/Spry2^tm1Ayos
• Genetic Background: B6.Cg-Spry2^tm1Ayos

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

mortality/aging

premature death ( J:99827 )

• about half die within 6 weeks after birth, with many of the remaining homozygotes surviving for at least 6 months

growth/size/body

decreased body size ( J:99827 )

digestive/alimentary system

dilated esophagus ( J:99827 )

• exhibit esophageal achalasia, showing a dilated esophagous that is clogged with saburra in 4 week or older mice

abnormal intestine morphology ( J:99827 )

• intestinal gauge is partly dilated and filled with gas at 2 months of age

abnormal digestive system physiology ( J:99827 )

• contraction force of the lower esophageal sphincter in response to carbachol is more than 5 times stronger than in wild-type

• motility of the intestine in response to carbachol is abnormal

intestinal obstruction ( J:99827 )

• intestinal pseudo-obstruction

nervous system

abnormal enteric nervous system morphology ( J:99827 )

• enteric nervous system hyperplasia

abnormal enteric ganglia morphology ( J:99827 )

• hypergangliosis of the enteric nervous system

abnormal enteric neuron morphology ( J:99827 )

• enteric nerve hyperplasia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achalasia		DOID:9164	OMIM:200400	J:99827
intestinal pseudo-obstruction		DOID:0080072		J:99827