Phenotypes associated with this allele

• Allele Symbol: Spry2⁺
• Allele Name: wild type
• Allele ID: MGI:2438067
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Ednrb^s-36Pub/Ednrb^+ Spry2^tm1.1Mrt/Spry2^+	involves: 101/Rl * 129P2/OlaHsd * C3H/Rl * C57BL/6J	MGI:3759579
cx2	Spry2^tm1Ayos/Spry2^+ Spry4^tm1Ayos/Spry4^tm1Ayos	involves: 129 * C57BL/6J	MGI:3700035
cx3	Spry2^tm1.1Mrt/Spry2^+ Spry4^tm1.2Mrt/Spry4^tm1.2Mrt	involves: 129P2/OlaHsd	MGI:6209558

Genotype
MGI:3759579

cx1

• Allelic Composition: Ednrb^s-36Pub/Ednrb⁺; Spry2^tm1.1Mrt/Spry2⁺
• Genetic Background: involves: 101/Rl * 129P2/OlaHsd * C3H/Rl * C57BL/6J

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

craniofacial

abnormal palatal rugae morphology ( J:125229 )

• rugae morphology is disorganized and fragmented in cleft palate, whereas wild-type palates exhibit orderly array of 7-9 rugae

cleft secondary palate ( J:125229 )

• compound mutants display 35% incidence of cleft secondary palate

digestive/alimentary system

abnormal palatal rugae morphology ( J:125229 )

• rugae morphology is disorganized and fragmented in cleft palate, whereas wild-type palates exhibit orderly array of 7-9 rugae

cleft secondary palate ( J:125229 )

• compound mutants display 35% incidence of cleft secondary palate

growth/size/body

abnormal palatal rugae morphology ( J:125229 )

• rugae morphology is disorganized and fragmented in cleft palate, whereas wild-type palates exhibit orderly array of 7-9 rugae

cleft secondary palate ( J:125229 )

• compound mutants display 35% incidence of cleft secondary palate

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:6209558

cx3

• Allelic Composition: Spry2^tm1.1Mrt/Spry2⁺; Spry4^tm1.2Mrt/Spry4^tm1.2Mrt
• Genetic Background: involves: 129P2/OlaHsd

skeleton

abnormal skeleton morphology ( J:315670 )

• display ciliopathy-like limb long bone phenotypes

short tibia ( J:315670 )

• at E18.5

increased enchondroma incidence ( J:315670 )

• located in ossified central areas of ribs and in the distal zone of long limb bones adjacent to disarranged growth plate

increased osteochondroma incidence ( J:315670 )

• located in ossified central areas of ribs and in the distal zone of long limb bones adjacent to disarranged growth plate

abnormal chondrocyte morphology ( J:315670 )

• axoneme elongation is seen in primary cilia of prenatal tibial chondrocytes

limbs/digits/tail

abnormal autopod morphology ( J:315670 )

• defects in autopodium patterning

• display variable forms and combinations of forelimb abnormalities, including polydactyly, brachydactyly, and syndactyly

short tibia ( J:315670 )

• at E18.5

cellular

abnormal primary cilium morphology ( J:315670 )

• axoneme elongation is seen in prenatal tibial chondrocytes

neoplasm

increased enchondroma incidence ( J:315670 )

• located in ossified central areas of ribs and in the distal zone of long limb bones adjacent to disarranged growth plate

increased osteochondroma incidence ( J:315670 )

• located in ossified central areas of ribs and in the distal zone of long limb bones adjacent to disarranged growth plate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ciliopathy		DOID:0060340		J:315670