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Phenotypes Associated with This Genotype
Genotype
MGI:2679734
Allelic
Composition
Kat6bGt(pKC199)1Pgr/Kat6bGt(pKC199)1Pgr
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kat6bGt(pKC199)1Pgr mutation (0 available); any Kat6b mutation (108 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 65% die prior to 1 month of age

craniofacial
• 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
• sutures between the parietal and frontal bones are frequently irregular
• concave rather than convex
• parietal bones are shorter relative to frontal bones
• mutants exhibit a shorter length and small processes of the lower jaws
• short and square appearance
• ears are located in a more ventral position than those of wild-type (J:62161)

growth/size/body
• short and square appearance
• ears are located in a more ventral position than those of wild-type (J:62161)
• in spite of normal feeding, neonates fail to thrive (J:62161)
• grossly evident 3 days after birth (J:62161)

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

skeleton
• 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
• sutures between the parietal and frontal bones are frequently irregular
• concave rather than convex
• parietal bones are shorter relative to frontal bones
• mutants exhibit a shorter length and small processes of the lower jaws
• mutant mice lack the fusion of the tibia and fibula
• mutants exhibit an altered growth plate
• 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
• mutants exhibit retarded suture closure (J:178264)

vision/eye
• nasolacrimal ducts are frequently occluded (J:62161)

nervous system
• mutants exhibit a neuronal migration defect
• reduced size of the dorsal telencephalon
• reduced cell number in the cortical plate during neurogenesis
• reduction in size of cortical plate
• brains are shorter than those of wild-type (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
• 23% reduction in the volume of the cerebral cortex relative to wild-type
• impaired development of the large pyramidal cell population in layer V
• mutants exhibit paucity of large pyramidal cells

adipose tissue
• reduction in body fat

cellular
• mutants exhibit a neuronal migration defect

limbs/digits/tail
• mutant mice lack the fusion of the tibia and fibula

muscle
• reduction in muscle mass

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory