Phenotypes Associated with This Genotype

Genotype
MGI:7341367

• Allelic Composition: Stk11^tm1.1Rdp/Stk11^tm1.1Rdp; Tg(PLAT-cre)116Sdu/0
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

neonatal lethality, complete penetrance ( J:236402 )

• all newborns are unable to feed normally and die during the first day after birth

craniofacial

abnormal craniofacial morphology ( J:236402 )

• newborns show severe craniofacial abnormalities

abnormal basicranium morphology ( J:236402 )

• at P0, cephalic neural crest cells (CNCC)-derived bones of the cranial base show significant surface reduction

• in contrast, mesodermal-derived occipital bones (e.g. basioccipital bone) are unaffected

small cranium ( J:236402 )

abnormal neurocranium morphology ( J:236402 )

• at P0, some bones of the skull vault, esp. the frontal bone, show significant surface reduction

large anterior fontanelle ( J:236402 )

• anterior fontanel is wide open at P0

small frontal bone ( J:236402 )

small parietal bone ( J:236402 )

abnormal sphenoid bone morphology ( J:236402 )

• sphenoid alae show significant surface reduction

small basisphenoid bone ( J:236402 )

small presphenoid bone ( J:236402 )

small temporal bone squamous part ( J:236402 )

• squamous temporal bone shows significant surface reduction

abnormal alveolar process morphology ( J:236402 )

• although mandibles are shorter, they exhibit a distinct hyperplasia at the alveolar part of the mandible

short mandible ( J:236402 )

• average mandible length is significantly reduced

small premaxilla ( J:236402 )

small maxilla ( J:236402 )

micrognathia ( J:236402 )

abnormal nasal bone morphology ( J:236402 )

• nasal bone exhibits increased porosity

• however, nasal bone surface area is unaffected

abnormal palatine bone morphology ( J:236402 )

• palatine shows significant surface reduction

small vomer bone ( J:236402 )

cleft secondary palate ( J:236402 )

• newborns exhibit a large cleft of the secondary palate

short snout ( J:236402 )

• newborns exhibit a shortened nose

skeleton

abnormal basicranium morphology ( J:236402 )

• at P0, cephalic neural crest cells (CNCC)-derived bones of the cranial base show significant surface reduction

• in contrast, mesodermal-derived occipital bones (e.g. basioccipital bone) are unaffected

small cranium ( J:236402 )

abnormal neurocranium morphology ( J:236402 )

• at P0, some bones of the skull vault, esp. the frontal bone, show significant surface reduction

large anterior fontanelle ( J:236402 )

• anterior fontanel is wide open at P0

small frontal bone ( J:236402 )

small parietal bone ( J:236402 )

abnormal sphenoid bone morphology ( J:236402 )

• sphenoid alae show significant surface reduction

small basisphenoid bone ( J:236402 )

small presphenoid bone ( J:236402 )

small temporal bone squamous part ( J:236402 )

• squamous temporal bone shows significant surface reduction

abnormal alveolar process morphology ( J:236402 )

• although mandibles are shorter, they exhibit a distinct hyperplasia at the alveolar part of the mandible

short mandible ( J:236402 )

• average mandible length is significantly reduced

small premaxilla ( J:236402 )

small maxilla ( J:236402 )

micrognathia ( J:236402 )

abnormal nasal bone morphology ( J:236402 )

• nasal bone exhibits increased porosity

• however, nasal bone surface area is unaffected

abnormal palatine bone morphology ( J:236402 )

• palatine shows significant surface reduction

small vomer bone ( J:236402 )

decreased bone mineral density ( J:236402 )

• many bones of the skull exhibit osteopenia

decreased bone ossification ( J:236402 )

• at P0, head skeleton shows both ossification and cartilage defects

growth/size/body

small frontal bone ( J:236402 )

abnormal alveolar process morphology ( J:236402 )

• although mandibles are shorter, they exhibit a distinct hyperplasia at the alveolar part of the mandible

short mandible ( J:236402 )

• average mandible length is significantly reduced

small premaxilla ( J:236402 )

small maxilla ( J:236402 )

micrognathia ( J:236402 )

abnormal nasal bone morphology ( J:236402 )

• nasal bone exhibits increased porosity

• however, nasal bone surface area is unaffected

abnormal palatine bone morphology ( J:236402 )

• palatine shows significant surface reduction

small vomer bone ( J:236402 )

cleft secondary palate ( J:236402 )

• newborns exhibit a large cleft of the secondary palate

short snout ( J:236402 )

• newborns exhibit a shortened nose

decreased body height ( J:236402 )

• newborns exhibit a reduced stature

digestive/alimentary system

cleft secondary palate ( J:236402 )

• newborns exhibit a large cleft of the secondary palate

behavior/neurological

abnormal suckling behavior ( J:236402 )

• newborns are unable to feed normally

respiratory system

abnormal nasal bone morphology ( J:236402 )

• nasal bone exhibits increased porosity

• however, nasal bone surface area is unaffected