All Phenotypes Ptpn11<tm6Bgn> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Emx1^tm1(cre)Krj/Emx1⁺ Ptpn11^tm6Bgn/Ptpn11⁺	B6.129S-Ptpn11^tm6Bgn Emx1^tm1(cre)Krj	MGI:6095197
cn2	Meox2^tm1(cre)Sor/Meox2⁺ Ptpn11^tm6Bgn/Ptpn11⁺	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6	MGI:3840253
cn3	Ptpn11^tm6Bgn/Ptpn11⁺ Tg(Tek-cre)12Flv/0	involves: 129S6/SvEvTac * C3H * C57BL/6	MGI:3840254
cn4	Ptpn11^tm6Bgn/Ptpn11⁺ Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3845013
cn5	Ptpn11^tm6Bgn/Ptpn11⁺ Tg(Mx1-cre)1Cgn/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3845014
cn6	Ptpn11^tm6Bgn/Ptpn11⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S6/SvEvTac * C57BL/6 * CBA/J	MGI:3840256
cn7	Ptpn11^tm6Bgn/Ptpn11⁺ Tg(Myh6-cre)2182Mds/0	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:3840255
cn8	Ptpn11^tm6Bgn/Ptpn11⁺ Tg(EIIa-cre)C5379Lmgd/0	involves: 129S6/SvEvTac * FVB/N	MGI:3845015

Allelic Composition	Emx1^tm1(cre)Krj/Emx1⁺ Ptpn11^tm6Bgn/Ptpn11⁺
Genetic Background	B6.129S-Ptpn11^tm6Bgn Emx1^tm1(cre)Krj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1^tm1(cre)Krj mutation (2 available); any Emx1 mutation (34 available)
Ptpn11^tm6Bgn mutation (2 available); any Ptpn11 mutation (43 available)

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

behavior/neurological

impaired cued conditioning behavior ( J:242312 )

• 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

decreased exploration in new environment ( J:242312 )

• mice exhibit reduced exploratory behavior in the open field task, with a shorter run distance than controls

abnormal spatial learning ( J:242312 )

• 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

abnormal hippocampus neuron morphology ( J:242312 )

• 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

Allelic Composition	Meox2^tm1(cre)Sor/Meox2⁺ Ptpn11^tm6Bgn/Ptpn11⁺
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2^tm1(cre)Sor mutation (3 available); any Meox2 mutation (18 available)
Ptpn11^tm6Bgn mutation (2 available); any Ptpn11 mutation (43 available)

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

cardiovascular system

abnormal heart morphology ( J:147154 )

• all mice show cardiac defects

thin myocardium ( J:147154 )

double outlet right ventricle ( J:147154 )

atrial septal defect ( J:147154 )

ventricular septal defect ( J:147154 )

• ventricular septal defect

heart valve hyperplasia ( J:147154 )

muscle

thin myocardium ( J:147154 )

Allelic Composition	Ptpn11^tm6Bgn/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:
Ptpn11^tm6Bgn mutation (2 available); any Ptpn11 mutation (43 available)
Tg(Tek-cre)12Flv mutation (1 available)

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

mortality/aging

embryonic lethality ( J:147154 )

cardiovascular system

thin myocardium ( J:147154 )

• seen at E13.5

increased atrioventricular cushion size ( J:147154 )

• seen at E11.5 and E13.5

double outlet right ventricle ( J:147154 )

ventricular septal defect ( J:147154 )

muscle

thin myocardium ( J:147154 )

• seen at E13.5

Allelic Composition	Ptpn11^tm6Bgn/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:
Ptpn11^tm6Bgn mutation (2 available); any Ptpn11 mutation (43 available)
Tg(CAG-cre/Esr1*)5Amc mutation (9 available)

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

hematopoietic system

abnormal definitive hematopoiesis ( J:148430 )

• 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

abnormal leukopoiesis ( J:148430 )

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

immune system

abnormal leukopoiesis ( J:148430 )

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

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

mortality/aging

premature death ( J:148430 )

• all mice die within 45 weeks after receiving pIpC injections

hematopoietic system

enlarged spleen ( J:148430 )

• following pIpC injections mice develop splenomegaly

abnormal definitive hematopoiesis ( J:148430 )

• 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

decreased common myeloid progenitor cell number ( J:148430 )

• following pIpC injections common myeloid progenitor cell numbers are reduced in the bone marrow

abnormal erythropoiesis ( J:148430 )

• following pIpC injections cultured erythroid progenitors produce fewer erythrocyte colony-forming unit colonies

abnormal leukopoiesis ( J:148430 )

• 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

extramedullary hematopoiesis ( J:148430 )

• 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

anemia ( J:148430 )

• following pIpC injections mice develop anemia

abnormal bone marrow cell number ( J:148430 )

• following pIpC injections increased numbers of immature predominantly granulocytic cells are found in the bone marrow

decreased bone marrow cell number ( J:148430 )

• following pIpC injections total bone marrow cellularity is decreased

decreased granulocyte monocyte progenitor cell number ( J:148430 )

• following pIpC injections granulocyte-monocyte progenitor cell numbers are reduced in the bone marrow

increased leukocyte cell number ( J:148430 )

• following pIpC injections mice develop progressive leukocytosis

increased granulocyte number ( J:148430 )

• following pIpC injections mice develop progressive granulocytosis

increased monocyte cell number ( J:148430 )

• following pIpC injections mice develop progressive monocytosis

decreased hematopoietic stem cell number ( J:148430 )

• 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

intermingled spleen red and white pulp ( J:148430 )

• following pIpC injections infiltration of mature myeloid cells into the red pulp is seen

abnormal splenic cell ratio ( J:148430 )

• 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

abnormal liver sinusoid morphology ( J:148430 )

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

enlarged liver ( J:148430 )

• following pIpC injections mice develop hepatomegaly

immune system

enlarged spleen ( J:148430 )

• following pIpC injections mice develop splenomegaly

abnormal leukopoiesis ( J:148430 )

increased leukocyte cell number ( J:148430 )

• following pIpC injections mice develop progressive leukocytosis

increased granulocyte number ( J:148430 )

• following pIpC injections mice develop progressive granulocytosis

increased monocyte cell number ( J:148430 )

• following pIpC injections mice develop progressive monocytosis

intermingled spleen red and white pulp ( J:148430 )

• following pIpC injections infiltration of mature myeloid cells into the red pulp is seen

abnormal splenic cell ratio ( J:148430 )

• 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

abnormal liver sinusoid morphology ( J:148430 )

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

growth/size/body

enlarged liver ( J:148430 )

• following pIpC injections mice develop hepatomegaly

enlarged spleen ( J:148430 )

• 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

Allelic Composition	Ptpn11^tm6Bgn/Ptpn11⁺ H2az2^{Tg(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:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)
Ptpn11^tm6Bgn mutation (2 available); any Ptpn11 mutation (43 available)

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

cardiovascular system

cardiovascular system phenotype ( J:147154 )

N	• no cardiac defects are seen

craniofacial

decreased cranium height ( J:147154 )

vision/eye

increased inner canthal distance ( J:147154 )

• increased inner canthal distance

skeleton

decreased cranium height ( J:147154 )

Allelic Composition	Ptpn11^tm6Bgn/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:
Ptpn11^tm6Bgn mutation (2 available); any Ptpn11 mutation (43 available)
Tg(Myh6-cre)2182Mds mutation (3 available)

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

cardiovascular system

cardiovascular system phenotype ( J:147154 )

N	• no gross cardiac defects are seen

Allelic Composition	Ptpn11^tm6Bgn/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:
Ptpn11^tm6Bgn mutation (2 available); any Ptpn11 mutation (43 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)

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

mortality/aging

preweaning lethality, complete penetrance ( J:148430 )

• no viable recombinants are found

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