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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ptpn11tm1.1Rbns
targeted mutation 1.1, Jeffrey Robbins
MGI:3852440
Summary 3 genotypes


Genotype
MGI:3852465
hm1
Allelic
Composition		 Ptpn11tm1.1Rbns/Ptpn11tm1.1Rbns
Genetic
Background		 B6.Cg-Ptpn11tm1.1Rbns
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1.1Rbns mutation (0 available); any Ptpn11 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:150835 )
• mice are indistinguishable from control littermates




Genotype
MGI:3852467
cn2
Allelic
Composition		 Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Ptpn11tm1.1Rbns/Ptpn11tm1.1Rbns
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 B6.Cg-Ptpn11tm1.1Rbns Gt(ROSA)26Sortm1Sor H2az2Tg(Wnt1-cre)11Rth
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Sor mutation (7 available); any Gt(ROSA)26Sor mutation (993 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Ptpn11tm1.1Rbns mutation (0 available); any Ptpn11 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
embryo
decreased cardiac neural crest cell number ( J:150835 )
• at E12.5, the number of neural crest cells in the outflow tract cushions are less than in wild-type mice
• at E17.5, the number of neural crest cells in the proximal outflow tract is less than in wild-type mice
• however, initial proliferation and migration are normal
impaired cranial neural crest cell differentiation ( J:150835 )
• cranial neural crest cells fail to differentiate into osteoblasts unlike in wild-type mice

nervous system
decreased cardiac neural crest cell number ( J:150835 )
• at E12.5, the number of neural crest cells in the outflow tract cushions are less than in wild-type mice
• at E17.5, the number of neural crest cells in the proximal outflow tract is less than in wild-type mice
• however, initial proliferation and migration are normal
impaired cranial neural crest cell differentiation ( J:150835 )
• cranial neural crest cells fail to differentiate into osteoblasts unlike in wild-type mice

cardiovascular system
decreased cardiac neural crest cell number ( J:150835 )
• at E12.5, the number of neural crest cells in the outflow tract cushions are less than in wild-type mice
• at E17.5, the number of neural crest cells in the proximal outflow tract is less than in wild-type mice
• however, initial proliferation and migration are normal




Genotype
MGI:3852466
cn3
Allelic
Composition		 Ptpn11tm1.1Rbns/Ptpn11tm1.1Rbns
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 B6.Cg-Ptpn11tm1.1Rbns H2az2Tg(Wnt1-cre)11Rth
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Ptpn11tm1.1Rbns mutation (0 available); any Ptpn11 mutation (46 available)
♀ 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 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
small snout ( J:150835 )
• small nose

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

growth/size/body
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

respiratory system
abnormal nasal cartilage morphology ( J:150835 )
• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

skeleton
abnormal mandible morphology ( J:150835 )
• neural crest cell-derived mandible is dramatically ablated or completely absent
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

vision/eye
abnormal eye distance/ position ( J:150835 )
• eye placement anomalies

digestive/alimentary system




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory