Phenotypes associated with this allele

• Allele Symbol: Spry4^tm1Ayos
• Allele Name: targeted mutation 1, Akihiko Yoshimura
• Allele ID: MGI:3699499
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spry4^tm1Ayos/Spry4^tm1Ayos	B6.Cg-Spry4^tm1Ayos	MGI:3700034
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:3700034

hm1

• Allelic Composition: Spry4^tm1Ayos/Spry4^tm1Ayos
• Genetic Background: B6.Cg-Spry4^tm1Ayos

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:116506 )

• fewer homozygotes are seen than expected at P7, although those that survive live to at least 12 months of age

growth/size/body

abnormal incisor morphology ( J:116506 )

• 3 of 14 homozygotes show increased incisor size

malocclusion ( J:116506 )

• 3 of 14 show malocclusion

decreased body weight ( J:116506 )

postnatal growth retardation ( J:116506 )

• postnatal growth is reduced

craniofacial

abnormal incisor morphology ( J:116506 )

• 3 of 14 homozygotes show increased incisor size

malocclusion ( J:116506 )

• 3 of 14 show malocclusion

abnormal mandible morphology ( J:116506 )

• 4 of 7 E13.5-E18.5 embryos show mandible defects

• mutants that die shortly after birth exhibit mandible defects

limbs/digits/tail

polysyndactyly ( J:116506 )

• polysyndactyly is almost fully penetrative and characterized by fusion and duplication of digits at the forelimbs

skeleton

abnormal incisor morphology ( J:116506 )

• 3 of 14 homozygotes show increased incisor size

malocclusion ( J:116506 )

• 3 of 14 show malocclusion

abnormal mandible morphology ( J:116506 )

• 4 of 7 E13.5-E18.5 embryos show mandible defects

• mutants that die shortly after birth exhibit mandible defects

respiratory system

respiratory system phenotype ( J:116506 )

N • homozygotes exhibit normal lung branching

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