Phenotypes Associated with This Genotype

Genotype
MGI:3852466

• Allelic Composition: Ptpn11^tm1.1Rbns/Ptpn11^tm1.1Rbns; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: B6.Cg-Ptpn11^tm1.1Rbns H2az2^{Tg(Wnt1-cre)11Rth}

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:150835 )

• embryo survival drops after E15.5 and no mice are born alive

craniofacial

abnormal mandible morphology ( J:150835 )

• neural crest cell-derived mandible is dramatically ablated or completely absent

absent mandible ( J:150835 )

micrognathia ( J:150835 )

abnormal nasal bone morphology ( J:150835 )

absent craniofacial bones ( J:150835 )

• neural crest cell-derived craniofacial bones are dramatically ablated or completely absent

abnormal tongue morphology ( J:150835 )

abnormal nasal cartilage morphology ( J:150835 )

• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

absent nasal capsule ( J:150835 )

small snout ( J:150835 )

• small nose

small ears ( J:150835 )

cardiovascular system

abnormal aortic arch and aortic arch branch attachment ( J:150835 )

• abnormal arch arteries are observed in 32% with 5 of 19 mice exhibiting malpositioning of the left carotid artery and 1 of 19 exhibiting defective left carotid artery

common truncal valve ( J:150835 )

• mice exhibit a truncal valve containing 3 leaflets (in 90% of mice) or 4 leaflets (in 10% of mice) unlike in wild-type mice

• the truncal valve is longer and thicker than the aortic valves of wild-type mice

• however, the atrioventricular valves are normal

persistent truncus arteriosus ( J:150835 )

• all mice exhibit persistent truncus arteriosus

• 84% of heart have type II and 16% type I persistent truncus arteriosus

ventricular septal defect ( J:150835 )

growth/size/body

abnormal mandible morphology ( J:150835 )

• neural crest cell-derived mandible is dramatically ablated or completely absent

absent mandible ( J:150835 )

micrognathia ( J:150835 )

abnormal nasal bone morphology ( J:150835 )

abnormal tongue morphology ( J:150835 )

abnormal nasal cartilage morphology ( J:150835 )

• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

absent nasal capsule ( J:150835 )

small snout ( J:150835 )

• small nose

small ears ( J:150835 )

microcephaly ( J:150835 )

decreased fetal size ( J:150835 )

• at E15.5

hearing/vestibular/ear

small ears ( J:150835 )

respiratory system

abnormal nasal bone morphology ( J:150835 )

abnormal nasal cartilage morphology ( J:150835 )

• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

absent nasal capsule ( J:150835 )

abnormal nasopharynx morphology ( J:150835 )

skeleton

abnormal mandible morphology ( J:150835 )

• neural crest cell-derived mandible is dramatically ablated or completely absent

absent mandible ( J:150835 )

micrognathia ( J:150835 )

abnormal nasal bone morphology ( J:150835 )

absent craniofacial bones ( J:150835 )

• neural crest cell-derived craniofacial bones are dramatically ablated or completely absent

abnormal nasal cartilage morphology ( J:150835 )

• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

absent nasal capsule ( J:150835 )

vision/eye

abnormal eye distance/ position ( J:150835 )

• eye placement anomalies

digestive/alimentary system

abnormal tongue morphology ( J:150835 )