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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptpn11tm6Bgn
targeted mutation 6, Benjamin Neel
MGI:3840248
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Emx1tm1(cre)Krj/Emx1+
Ptpn11tm6Bgn/Ptpn11+
B6.129S-Ptpn11tm6Bgn Emx1tm1(cre)Krj MGI:6095197
cn2
Meox2tm1(cre)Sor/Meox2+
Ptpn11tm6Bgn/Ptpn11+
involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 MGI:3840253
cn3
Ptpn11tm6Bgn/Ptpn11+
Tg(Tek-cre)12Flv/0
involves: 129S6/SvEvTac * C3H * C57BL/6 MGI:3840254
cn4
Ptpn11tm6Bgn/Ptpn11+
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129S6/SvEvTac * C57BL/6 * CBA MGI:3845013
cn5
Ptpn11tm6Bgn/Ptpn11+
Tg(Mx1-cre)1Cgn/0
involves: 129S6/SvEvTac * C57BL/6 * CBA MGI:3845014
cn6
Ptpn11tm6Bgn/Ptpn11+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S6/SvEvTac * C57BL/6 * CBA/J MGI:3840256
cn7
Ptpn11tm6Bgn/Ptpn11+
Tg(Myh6-cre)2182Mds/0
involves: 129S6/SvEvTac * C57BL/6 * FVB/N MGI:3840255
cn8
Ptpn11tm6Bgn/Ptpn11+
Tg(EIIa-cre)C5379Lmgd/0
involves: 129S6/SvEvTac * FVB/N MGI:3845015


Genotype
MGI:6095197
cn1
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Ptpn11tm6Bgn/Ptpn11+
Genetic
Background
B6.129S-Ptpn11tm6Bgn Emx1tm1(cre)Krj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (34 available)
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• during auditory cued retrieval, mice show a reduced ability to discriminate conditional stimuli of 10-kHZ, 10 seconds with 20 seconds inter stimulus intervals (CS+) and conditional stimuli of 2.5-kHz, 10 seconds with 20 seconds inter stimulus intervals (CS-), with response to CS+ slightly reduced and to CS- somewhat increased
• however, mice exhibit normal levels of contextual fear memory
• mice exhibit reduced exploratory behavior in the open field task, with a shorter run distance than controls
• in the Morris water maze, mice show a reduced path length during training and lower average speed resulting in similar escape latencies as controls, and reduced total distance traveled during probe trial 1, indicating reduced memory specificity

nervous system
• surface expression and trafficking of synaptic glutamate receptors is altered in hippocampal neurons, indicating possible hippocampal neuronal plasticity defects
• however, axonal outgrowth and dendritic arborization in cultured hippocampal neurons is similar to controls and synaptogenesis appears normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Noonan syndrome 1 DOID:0060578 OMIM:163950
J:242312




Genotype
MGI:3840253
cn2
Allelic
Composition
Meox2tm1(cre)Sor/Meox2+
Ptpn11tm6Bgn/Ptpn11+
Genetic
Background
involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2tm1(cre)Sor mutation (3 available); any Meox2 mutation (18 available)
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• all mice show cardiac defects
• ventricular septal defect

muscle




Genotype
MGI:3840254
cn3
Allelic
Composition
Ptpn11tm6Bgn/Ptpn11+
Tg(Tek-cre)12Flv/0
Genetic
Background
involves: 129S6/SvEvTac * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (46 available)
Tg(Tek-cre)12Flv mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• seen at E13.5
• seen at E11.5 and E13.5

muscle
• seen at E13.5




Genotype
MGI:3845013
cn4
Allelic
Composition
Ptpn11tm6Bgn/Ptpn11+
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (46 available)
Tg(CAG-cre/Esr1*)5Amc mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• following tamoxifen treatment cultured bone marrow megakaryocyte-erythrocyte progenitor cells produce significantly fewer erythrocyte colony-forming unit colonies and slightly more erythroid burst-forming unit colonies
• following tamoxifen treatment cultured granulocyte-monocyte progenitor cells and common myeloid progenitor cells give rise to more cytokine independent colonies

immune system
• following tamoxifen treatment cultured granulocyte-monocyte progenitor cells and common myeloid progenitor cells give rise to more cytokine independent colonies




Genotype
MGI:3845014
cn5
Allelic
Composition
Ptpn11tm6Bgn/Ptpn11+
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (46 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die within 45 weeks after receiving pIpC injections

hematopoietic system
• following pIpC injections mice develop splenomegaly
• following pIpC injections cultured bone marrow megakaryocyte-erythrocyte progenitor cells produce fewer erythrocyte colony-forming unit colonies and more, larger erythroid burst-forming unit colonies
• the myeloproliferative disorder seen after pIpC injections does not develop in irradiated mice engrafted with cells from diseased mice
• following pIpC injections common myeloid progenitor cell numbers are reduced in the bone marrow
• following pIpC injections cultured erythroid progenitors produce fewer erythrocyte colony-forming unit colonies
• following pIpC injections both bone marrow and spleen cells form increased numbers of cytokine independent colonies that are primarily macrophage colony forming units and granulocyte colony forming units
• following pIpC injections mice develop marked extramedullary hematopoiesis with an increase in the numbers of long term and short term hematopoietic stem cells and granulocyte-monocyte progenitor cells following pIpC injections
• following pIpC injections mice develop anemia
• following pIpC injections increased numbers of immature predominantly granulocytic cells are found in the bone marrow
• following pIpC injections total bone marrow cellularity is decreased
• following pIpC injections granulocyte-monocyte progenitor cell numbers are reduced in the bone marrow
• following pIpC injections mice develop progressive leukocytosis
• following pIpC injections mice develop progressive granulocytosis
• following pIpC injections mice develop progressive monocytosis
• following pIpC injections the sizes of the Lin-Sca1+cKit+ (LSK) and Lin-Sca1-cKit+ (LK) compartments in the bone marrow are reduced
• following pIpC injections fewer cells in the LSK compartment are quiescent and these cells are hypersensitive to stem cell factor
• following pIpC injections the number of long term hematopoietic stem cells is reduced
• following pIpC injections infiltration of mature myeloid cells into the red pulp is seen
• following pIpC injections the ratio of Mac1+Gr1+ cells is increased 9 to 10 fold, the ratio of erythroid progenitors is increased 6 to 7 fold, and the relative number of T cells is decreased

liver/biliary system
• following pIpC injections periportal cuffing of liver sinusoids with infiltrating granulocytes is seen
• following pIpC injections mice develop hepatomegaly

immune system
• following pIpC injections mice develop splenomegaly
• following pIpC injections both bone marrow and spleen cells form increased numbers of cytokine independent colonies that are primarily macrophage colony forming units and granulocyte colony forming units
• following pIpC injections mice develop progressive leukocytosis
• following pIpC injections mice develop progressive granulocytosis
• following pIpC injections mice develop progressive monocytosis
• following pIpC injections infiltration of mature myeloid cells into the red pulp is seen
• following pIpC injections the ratio of Mac1+Gr1+ cells is increased 9 to 10 fold, the ratio of erythroid progenitors is increased 6 to 7 fold, and the relative number of T cells is decreased

cardiovascular system
• following pIpC injections periportal cuffing of liver sinusoids with infiltrating granulocytes is seen

growth/size/body
• following pIpC injections mice develop hepatomegaly
• following pIpC injections mice develop splenomegaly

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
juvenile myelomonocytic leukemia DOID:0050458 OMIM:607785
J:148430




Genotype
MGI:3840256
cn6
Allelic
Composition
Ptpn11tm6Bgn/Ptpn11+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• no cardiac defects are seen

craniofacial

vision/eye
• increased inner canthal distance

skeleton




Genotype
MGI:3840255
cn7
Allelic
Composition
Ptpn11tm6Bgn/Ptpn11+
Tg(Myh6-cre)2182Mds/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (46 available)
Tg(Myh6-cre)2182Mds mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• no gross cardiac defects are seen




Genotype
MGI:3845015
cn8
Allelic
Composition
Ptpn11tm6Bgn/Ptpn11+
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background
involves: 129S6/SvEvTac * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (46 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no viable recombinants are found





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory