Phenotypes Associated with This Genotype

Genotype
MGI:4361520

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0
• Genetic Background: involves: C57BL/6J * CBA/J * FVB/N

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

mortality/aging

postnatal lethality ( J:153094 )

• mice that exhibit a cleft palate die within 5 days of birth

craniofacial

abnormal craniofacial morphology ( J:153094 )

• mice exhibit craniofacial defects that become more pronounced with age

• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height

abnormal cranium morphology ( J:153094 )

• at E17.5 and P2, mice exhibit abnormal skull morphology

• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height

decreased cranium height ( J:153094 )

• mice exhibit a reduced skull length compared to in wild-type mice

• however, treatment with U0126 restores frontal bone morphology

large anterior fontanelle ( J:153094 )

• mice exhibit larger than normal anterior fontanelle

• however, treatment with U0126 restores normal anterior fontanelle morphology

abnormal frontal bone morphology ( J:153094 )

• mice exhibit taller frontal bone heights compared with wild-type mice

• however, treatment with U0126 restores frontal bone morphology

short mandible ( J:153094 )

• proportional to the small skull length

• however, treatment with U0126 restores mandible length

domed cranium ( J:153094 )

• dome-shaped head

cleft upper lip ( J:153094 )

• in 21% of mice

cleft palate ( J:153094 )

• in 21% of mice

abnormal nose morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

abnormal nasal cartilage morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

broad snout ( J:153094 )

• mice have a broad nose

lowered ear position ( J:153094 )

skeleton

abnormal cranium morphology ( J:153094 )

• at E17.5 and P2, mice exhibit abnormal skull morphology

• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height

decreased cranium height ( J:153094 )

• mice exhibit a reduced skull length compared to in wild-type mice

• however, treatment with U0126 restores frontal bone morphology

large anterior fontanelle ( J:153094 )

• mice exhibit larger than normal anterior fontanelle

• however, treatment with U0126 restores normal anterior fontanelle morphology

abnormal frontal bone morphology ( J:153094 )

• mice exhibit taller frontal bone heights compared with wild-type mice

• however, treatment with U0126 restores frontal bone morphology

short mandible ( J:153094 )

• proportional to the small skull length

• however, treatment with U0126 restores mandible length

domed cranium ( J:153094 )

• dome-shaped head

abnormal nasal cartilage morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

growth/size/body

cleft upper lip ( J:153094 )

• in 21% of mice

cleft palate ( J:153094 )

• in 21% of mice

abnormal nose morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

abnormal nasal cartilage morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

broad snout ( J:153094 )

• mice have a broad nose

lowered ear position ( J:153094 )

decreased body weight ( J:153094 )

• mice exhibit a reduced body weight that is partially restored by treatment with U0126

webbed neck ( J:153094 )

• webbed neck

decreased body height ( J:153094 )

• mice exhibit a short stature that is partially restored by treatment with U0126

postnatal growth retardation ( J:153094 )

• pronounced at P2

decreased fetal size ( J:153094 )

• slightly at E17.5

embryo

abnormal neural crest cell migration ( J:153094 )

• neural crest cells fail to contribute to the parietal bone unlike in wild-type mice

hearing/vestibular/ear

lowered ear position ( J:153094 )

vision/eye

ocular hypertelorism ( J:153094 )

• mice exhibit hypetelorism compared with wild-type mice

increased inner canthal distance ( J:153094 )

• mice exhibit a greater inner canthal distance compared with wild-type mice

• however, treatment with U0126 restores inner canthal distance

digestive/alimentary system

cleft palate ( J:153094 )

• in 21% of mice

respiratory system

abnormal nose morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

abnormal nasal cartilage morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

integument

webbed neck ( J:153094 )

• webbed neck

cellular

abnormal neural crest cell migration ( J:153094 )

• neural crest cells fail to contribute to the parietal bone unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome 1		DOID:0060578	OMIM:163950	J:153094