Phenotypes Associated with This Genotype

Genotype
MGI:2679734

• Allelic Composition: Kat6b^{Gt(pKC199)1Pgr}/Kat6b^{Gt(pKC199)1Pgr}
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:62161 )

• 65% die prior to 1 month of age

craniofacial

abnormal cranium morphology ( J:62161 )

• though skull defects may lead to some distortion of the brain, they are not the primary cause for the observed developmental defects of the brain

abnormal coronal suture morphology ( J:62161 )

• sutures between the parietal and frontal bones are frequently irregular

abnormal occipital bone morphology ( J:62161 )

• concave rather than convex

abnormal parietal bone morphology ( J:62161 )

• parietal bones are shorter relative to frontal bones

short mandible ( J:178264 )

• mutants exhibit a shorter length and small processes of the lower jaws

shortened head ( J:62161 )

• short and square appearance

abnormal ear position ( J:62161 , J:178264 )

• ears are located in a more ventral position than those of wild-type (J:62161)

growth/size/body

shortened head ( J:62161 )

• short and square appearance

abnormal ear position ( J:62161 , J:178264 )

• ears are located in a more ventral position than those of wild-type (J:62161)

decreased body size ( J:62161 )

decreased body weight ( J:62161 )

postnatal growth retardation ( J:62161 , J:178264 )

• in spite of normal feeding, neonates fail to thrive (J:62161)

• grossly evident 3 days after birth (J:62161)

hearing/vestibular/ear

abnormal ear position ( J:62161 , J:178264 )

• ears are located in a more ventral position than those of wild-type (J:62161)

skeleton

abnormal cranium morphology ( J:62161 )

• though skull defects may lead to some distortion of the brain, they are not the primary cause for the observed developmental defects of the brain

abnormal coronal suture morphology ( J:62161 )

• sutures between the parietal and frontal bones are frequently irregular

abnormal occipital bone morphology ( J:62161 )

• concave rather than convex

abnormal parietal bone morphology ( J:62161 )

• parietal bones are shorter relative to frontal bones

short mandible ( J:178264 )

• mutants exhibit a shorter length and small processes of the lower jaws

abnormal limb long bone morphology ( J:178264 )

• mutant mice lack the fusion of the tibia and fibula

abnormal epiphyseal plate morphology ( J:178264 )

• mutants exhibit an altered growth plate

abnormal long bone hypertrophic chondrocyte zone ( J:178264 )

• the hypertrophic region is disorganized at E15.5 and is more pronounced at E18.5

• aberrant columnar structure of the hypertrophic region of the growth plate

delayed cranial suture closure ( J:62161 , J:178264 )

• mutants exhibit retarded suture closure (J:178264)

vision/eye

microphthalmia ( J:62161 , J:178264 )

abnormal nasolacrimal duct morphology ( J:62161 , J:178264 )

• nasolacrimal ducts are frequently occluded (J:62161)

nervous system

abnormal neuronal migration ( J:178264 )

• mutants exhibit a neuronal migration defect

abnormal telencephalon development ( J:62161 )

• reduced size of the dorsal telencephalon

• reduced cell number in the cortical plate during neurogenesis

abnormal cortical plate morphology ( J:178264 )

• reduction in size of cortical plate

decreased brain size ( J:62161 , J:178264 )

• brains are shorter than those of wild-type (J:62161)

decreased inferior colliculus size ( J:62161 )

• reduced size of inferior colliculi resulting in a failure of colliculi to meet at the dorsal midline in 75% of the observed cases

abnormal cerebral cortex morphology ( J:62161 )

• 23% reduction in the volume of the cerebral cortex relative to wild-type

• impaired development of the large pyramidal cell population in layer V

decreased cerebral cortex pyramidal cell number ( J:178264 )

• mutants exhibit paucity of large pyramidal cells

small olfactory bulb ( J:62161 , J:178264 )

adipose tissue

decreased percent body fat/body weight ( J:178264 )

• reduction in body fat

cellular

abnormal neuronal migration ( J:178264 )

• mutants exhibit a neuronal migration defect

limbs/digits/tail

abnormal limb long bone morphology ( J:178264 )

• mutant mice lack the fusion of the tibia and fibula

muscle

abnormal muscle morphology ( J:178264 )

• reduction in muscle mass

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome		DOID:3490	OMIM:PS163950	J:178264