Phenotypes associated with this allele

• Allele Symbol: Spry2^tm1Ayos
• Allele Name: targeted mutation 1, Akihiko Yoshimura
• Allele ID: MGI:3584128
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spry2^tm1Ayos/Spry2^tm1Ayos	B6.Cg-Spry2^tm1Ayos	MGI:3584494
cx2	Spry2^tm1Ayos/Spry2^+ Spry4^tm1Ayos/Spry4^tm1Ayos	involves: 129 * C57BL/6J	MGI:3700035
cx3	Spry2^tm1Ayos/Spry2^tm1Ayos Spry4^tm1Ayos/Spry4^+	involves: 129 * C57BL/6J	MGI:3700036
cx4	Spry2^tm1Ayos/Spry2^tm1Ayos Spry4^tm1Ayos/Spry4^tm1Ayos	involves: 129 * C57BL/6J	MGI:3700037

Genotype
MGI:3584494

hm1

• 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

Genotype
MGI:3700035

cx2

• Allelic Composition: Spry2^tm1Ayos/Spry2⁺; Spry4^tm1Ayos/Spry4^tm1Ayos
• Genetic Background: involves: 129 * C57BL/6J

mortality/aging

perinatal lethality, incomplete penetrance ( J:116506 )

• homozygotes are rarely born

postnatal lethality, incomplete penetrance ( J:116506 )

• homozygotes that are born appear sick and most die within a few weeks of birth for unknown reasons

growth/size/body

decreased body weight ( J:116506 )

Genotype
MGI:3700036

cx3

• Allelic Composition: Spry2^tm1Ayos/Spry2^tm1Ayos; Spry4^tm1Ayos/Spry4⁺
• Genetic Background: involves: 129 * C57BL/6J

mortality/aging

prenatal lethality, complete penetrance ( J:116506 )

Genotype
MGI:3700037

cx4

• Allelic Composition: Spry2^tm1Ayos/Spry2^tm1Ayos; Spry4^tm1Ayos/Spry4^tm1Ayos
• Genetic Background: involves: 129 * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:116506 )

• most die by E12.5

prenatal lethality, complete penetrance ( J:116506 )

vision/eye

cyclopia ( J:116506 )

craniofacial

abnormal craniofacial morphology ( J:116506 )

• craniofacial abnormalities

limbs/digits/tail

abnormal limb morphology ( J:116506 )

• limb abnormalities

nervous system

abnormal brain development ( J:116506 )

abnormal forebrain development ( J:116506 )

• severe truncation of the forebrain and cephalic neural crest-derived head tissues

alobar holoprosencephaly ( J:116506 )

• alobar brain development and cyclopia resemble holoprosencephaly

respiratory system

abnormal lung development ( J:116506 )

• exhibit abnormalities of the lung pattern and epithelial branching

abnormal respiratory conducting tube morphology ( J:116506 )

• reduced number of airways

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocephalosyndactylia		DOID:12960	OMIM:101200	J:116506