Phenotypes associated with this allele

• Allele Symbol: Ryk^tm1Stac
• Allele Name: targeted mutation 1, Steven A Stacker
• Allele ID: MGI:2667542
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ryk^tm1Stac/Ryk^tm1Stac	involves: 129S1/Sv * C57BL/6J	MGI:2667559

Genotype
MGI:2667559

hm1

• Allelic Composition: Ryk^tm1Stac/Ryk^tm1Stac
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:84392 )

• most mice died within 1 day of birth, though some survived up to 8 days, and 2 to adulthood

behavior/neurological

abnormal gait ( J:84392 )

• mice surviving to adulthood dragged their hindlimbs

craniofacial

abnormal neurocranium morphology ( J:84392 )

• rounder than that of wild-type or heterozygous mutant mice

small neurocranium ( J:84392 )

• slightly smaller than that of wild-type or heterozygous mutant mice

short mandible ( J:84392 )

abnormal maxilla morphology ( J:84392 )

• in conjunction with shortened nasal bone, resulting in flattened midface

short nasal bone ( J:84392 )

• shortened nasal bone, resulting in flattened midface

abnormal midface morphology ( J:84392 )

• flattened midface

cleft secondary palate ( J:84392 )

• cleft secondary palate observed in 88% of mice

• consequence of abnormally high positioning and enlargement of the tongue

increased tongue size ( J:84392 )

• enlargement observed around E14, resulting in the disruption of the development of the palatal shelf

short snout ( J:84392 )

growth/size/body

short nasal bone ( J:84392 )

• shortened nasal bone, resulting in flattened midface

abnormal midface morphology ( J:84392 )

• flattened midface

cleft secondary palate ( J:84392 )

• cleft secondary palate observed in 88% of mice

• consequence of abnormally high positioning and enlargement of the tongue

increased tongue size ( J:84392 )

• enlargement observed around E14, resulting in the disruption of the development of the palatal shelf

short snout ( J:84392 )

cachexia ( J:84392 )

microcephaly ( J:84392 )

• exhibited by mice that survived to adulthood

postnatal growth retardation ( J:84392 )

• growth was severely impaired in mice surviving past the first day of life

homeostasis/metabolism

cyanosis ( J:84392 )

• mice were largely unable to suckle, became dehydrated, cyanotic, and exhibited gasping respirations

limbs/digits/tail

short ulna ( J:84392 )

• reduced in length

abnormal hindlimb morphology ( J:84392 )

• hindlimbs were splayed laterally

short fibula ( J:84392 )

short limbs ( J:84392 )

• 18% to 25% reduction in the length of the long bones

skeleton

abnormal neurocranium morphology ( J:84392 )

• rounder than that of wild-type or heterozygous mutant mice

small neurocranium ( J:84392 )

• slightly smaller than that of wild-type or heterozygous mutant mice

short mandible ( J:84392 )

abnormal maxilla morphology ( J:84392 )

• in conjunction with shortened nasal bone, resulting in flattened midface

short nasal bone ( J:84392 )

• shortened nasal bone, resulting in flattened midface

short ulna ( J:84392 )

• reduced in length

short fibula ( J:84392 )

vision/eye

microphthalmia ( J:84392 )

• bilateral microphthalmia was observed in mice that survived to adulthood

digestive/alimentary system

cleft secondary palate ( J:84392 )

• cleft secondary palate observed in 88% of mice

• consequence of abnormally high positioning and enlargement of the tongue

increased tongue size ( J:84392 )

• enlargement observed around E14, resulting in the disruption of the development of the palatal shelf

respiratory system

short nasal bone ( J:84392 )

• shortened nasal bone, resulting in flattened midface