Phenotypes Associated with This Genotype

Genotype
MGI:5548171

• Allelic Composition: Pak1ip1^mray/Pak1ip1^mray
• Genetic Background: involves: C57BL/6J * FVB/NJ

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

muscle

abnormal masseter muscle morphology ( J:204457 )

• severe hypoplasia of the masseter muscle at E15

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:204457 )

• mice usually die around E14

craniofacial

abnormal maxilla morphology ( J:204457 )

• cleft

abnormal craniofacial development ( J:204457 )

• severely reduced midline structures of the frontonasal skeleton; hypoplasia of craniofacial structures

• midfacial specification is mildly altered, as determined by marker expression

palatal shelves fail to meet at midline ( J:204457 )

• at E14.5

abnormal masseter muscle morphology ( J:204457 )

• severe hypoplasia of the masseter muscle at E15

abnormal midface morphology ( J:204457 )

• midfacial specification is mildly altered, as determined by marker expression

cleft secondary palate ( J:204457 )

small nasal septum ( J:204457 )

• severely reduced

facial cleft ( J:204457 )

• median orofacial clefting

nervous system

decreased forebrain size ( J:204457 )

decreased hindbrain size ( J:204457 )

increased midbrain size ( J:204457 )

abnormal brain ventricle morphology ( J:204457 )

• small

integument

skin edema ( J:204457 )

• subcutaneous edema almost covers entire body

growth/size/body

abnormal maxilla morphology ( J:204457 )

• cleft

palatal shelves fail to meet at midline ( J:204457 )

• at E14.5

abnormal masseter muscle morphology ( J:204457 )

• severe hypoplasia of the masseter muscle at E15

abnormal midface morphology ( J:204457 )

• midfacial specification is mildly altered, as determined by marker expression

cleft secondary palate ( J:204457 )

small nasal septum ( J:204457 )

• severely reduced

facial cleft ( J:204457 )

• median orofacial clefting

decreased fetal size ( J:204457 )

• at E15

fetal growth retardation ( J:204457 )

cellular

decreased cell proliferation ( J:204457 )

• in the palatal shelves at E13.5

• however, proliferation can be rescued by Trp53 inhibition

homeostasis/metabolism

skin edema ( J:204457 )

• subcutaneous edema almost covers entire body

respiratory system

small nasal septum ( J:204457 )

• severely reduced

skeleton

abnormal maxilla morphology ( J:204457 )

• cleft

digestive/alimentary system

palatal shelves fail to meet at midline ( J:204457 )

• at E14.5

cleft secondary palate ( J:204457 )