All Phenotypes Ptpn6<me> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptpn6^me/Ptpn6^me	C3FeLe.B6 a/a-Ptpn6^me/J	MGI:5314646
hm2	Ptpn6^me/Ptpn6^me	C57BL/6J-Ptpn6^me/J	MGI:3604142
hm3	Ptpn6^me/Ptpn6^me	either: (involves: C3H * C57BL/6J) or (involves: C57BL/6J * C57BL/6N)	MGI:5639271
hm4	Ptpn6^me/Ptpn6^me	involves: C3HeB/FeJ * C57BL/6	MGI:5314645
hm5	Ptpn6^me/Ptpn6^me	involves: C3H/HeN * C57BL/6J * NFS	MGI:5314644
cx6	Btk^xid/? Ptpn6^me/Ptpn6^me	involves: C57BL/6J * CBA/N * NFS	MGI:5314647

Allelic Composition	Ptpn6^me/Ptpn6^me
Genetic Background	C3FeLe.B6 a/a-Ptpn6^me/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn6^me mutation (2 available); any Ptpn6 mutation (47 available)

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

nervous system

increased microglial cell activation ( J:88807 )

• significantly activated relative to controls as measured in the anteroventricular cochlear nucleus when unilateral cochlear ablation is performed at 14 days

• microglial cells seem transformed to the amoeboid activated state

• level of activation is significantly higher at 4 days after operation but not at 2 or 6 days

• no activation if cochlear ablation is performed at 5 days of age

• no difference from controls if ablation performed at 21 days of age

decreased neuron number ( J:88807 )

• neuronal cell loss in the anteroventricular cochlear nucleus is high relative to controls in mice operated on at 14 days

• unilateral cochlear ablation at 21 days has little effect on neuronal cell loss in either mutant or control mice

immune system

increased microglial cell activation ( J:88807 )

• significantly activated relative to controls as measured in the anteroventricular cochlear nucleus when unilateral cochlear ablation is performed at 14 days

• microglial cells seem transformed to the amoeboid activated state

• level of activation is significantly higher at 4 days after operation but not at 2 or 6 days

• no activation if cochlear ablation is performed at 5 days of age

• no difference from controls if ablation performed at 21 days of age

hematopoietic system

increased microglial cell activation ( J:88807 )

• significantly activated relative to controls as measured in the anteroventricular cochlear nucleus when unilateral cochlear ablation is performed at 14 days

• microglial cells seem transformed to the amoeboid activated state

• level of activation is significantly higher at 4 days after operation but not at 2 or 6 days

• no activation if cochlear ablation is performed at 5 days of age

• no difference from controls if ablation performed at 21 days of age

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:5579 )

• high mortality before weaning

pigmentation

abnormal skin pigmentation ( J:5579 )

• recognized at 3 to 4 days of age by patchy absence of skin pigment

immune system

abnormal thymus morphology ( J:5579 )

small thymus ( J:5579 )

• although smaller than normal, the thymus is histologically normal until 25 days of age

• severe involution and necrosis is found in sick mice, with severity correlating with degree of illness

enlarged spleen ( J:5579 )

abnormal immune system cell morphology ( J:5579 )

• mice have a population of unusual binucleate lymphocytes

abnormal granulocyte morphology ( J:5579 )

• differential counts of blood from 1 to 3 day old mice showed an immature granuloctye population

abnormal leukocyte cell number ( J:5579 )

increased leukocyte cell number ( J:5579 )

increased granulocyte number ( J:5579 )

increased monocyte cell number ( J:5579 )

abnormal Peyer's patch morphology ( J:5579 )

• rarely any differentiation of lymphoid tissue into nodules is found

• lymphocytes are larger and sparsely distributed

abnormal humoral immune response ( J:5579 )

• mice are severely deficient in capacity to generate an immune response

increased immunoglobulin level ( J:5579 )

increased IgA level ( J:5579 )

• serum levels are elevated

increased IgG level ( J:5579 )

• serum levels are elevated

increased IgM level ( J:5579 )

• serum levels are markedly elevated above normal

autoimmune response ( J:5579 )

• early onset

hematopoietic system

abnormal thymus morphology ( J:5579 )

small thymus ( J:5579 )

• although smaller than normal, the thymus is histologically normal until 25 days of age

• severe involution and necrosis is found in sick mice, with severity correlating with degree of illness

enlarged spleen ( J:5579 )

abnormal granulocyte morphology ( J:5579 )

• differential counts of blood from 1 to 3 day old mice showed an immature granuloctye population

abnormal leukocyte cell number ( J:5579 )

increased leukocyte cell number ( J:5579 )

increased granulocyte number ( J:5579 )

increased monocyte cell number ( J:5579 )

increased immunoglobulin level ( J:5579 )

increased IgA level ( J:5579 )

• serum levels are elevated

increased IgG level ( J:5579 )

• serum levels are elevated

increased IgM level ( J:5579 )

• serum levels are markedly elevated above normal

respiratory system

abnormal lung morphology ( J:5579 )

• mice develop lesions in the lung by 3 days of age

cellular

abnormal cell cycle ( J:66843 )

abnormal cell cycle checkpoint function ( J:66843 )

• there is a higher than normal percentage of splenocytes in S and G2/M (22% instead of 7%) and corresponding decrease in splenocytes in G0/G1 (73% instead of 89%)

• 6 hours after 5 Gy of gamma irradiation homozygous splenocytes show abnormal cell cycle arrest, with 31% instead of the wild-type 4% in S+G2/M phases, and fewer irradiated splenocytes are found in the subG0 (hyplodiploid) state (15% instead of 45%)

decreased cellular sensitivity to gamma-irradiation ( J:66843 )

• the LD50 for homozygous spleen cells is 24.5 Gy gamma radiation versus 6.5 Gy for wildtype splenocytes

decreased apoptosis ( J:66843 )

• only 21% of spleen cells are apoptotic 6 hours after exposure to 5 Gy gamma irradiation, whereas 40% of wildtype splenocytes are apoptotic after treatment.

• B and T cells show the greatest resistance to apoptosis in the splenocyte population, but all splenic cell types including macrophages and granulocytes have greater resistance to apoptosis than wildtype cells

• splenocytoes from homozygotes have much less disruption of mitochondrial transmembrane potential at 6 and 24 hours post-exposure to 5 Gy of gamma irradiation and do not show the normal increase in expression of Bax

integument

focal hair loss ( J:5579 )

• patchy absence of hair in the coat gives mice a motheaten appearance

skin lesions ( J:5579 )

• rapidly progressing lesions develop on the feet by 3 weeks of age

• as early as 2 days after birth abscesses appear on the skin, rupture and begin to heal in 24 hrs

abnormal skin pigmentation ( J:5579 )

• recognized at 3 to 4 days of age by patchy absence of skin pigment

endocrine/exocrine glands

abnormal thymus morphology ( J:5579 )

small thymus ( J:5579 )

• although smaller than normal, the thymus is histologically normal until 25 days of age

• severe involution and necrosis is found in sick mice, with severity correlating with degree of illness

growth/size/body

enlarged spleen ( J:5579 )

Allelic Composition	Ptpn6^me/Ptpn6^me
Genetic Background	either: (involves: C3H * C57BL/6J) or (involves: C57BL/6J * C57BL/6N)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn6^me mutation (2 available); any Ptpn6 mutation (47 available)

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

integument

skin lesions ( J:5999 )

• focal dermal accumulations of macrophages frequently associated with hair bulbs

endocrine/exocrine glands

thymus atrophy ( J:5999 )

• the thymus of 2-3 week old mice appear normal but the thymus of older mice show significant atrophy

hematopoietic system

thymus atrophy ( J:5999 )

• the thymus of 2-3 week old mice appear normal but the thymus of older mice show significant atrophy

immune system

thymus atrophy ( J:5999 )

• the thymus of 2-3 week old mice appear normal but the thymus of older mice show significant atrophy

lung inflammation ( J:5999 )

• pneumonia affects the entire lung

• lung lesions present as pneumonia induced by crystals, lamellar bodies, giant cells, and macrophages

respiratory system

lung inflammation ( J:5999 )

• pneumonia affects the entire lung

• lung lesions present as pneumonia induced by crystals, lamellar bodies, giant cells, and macrophages

abnormal lung morphology ( J:5999 )

• lung lesions are seen in mutant mice as young as 7 days old with focal accumulations of alveolar macrophages

• ultrastructural analysis show alveolar macrophages contain crystals and iron-positive brown granules

• lesions are also seen in subpleural areas

respiratory distress ( J:5999 )

• developed as mice approached 30 days of age

growth/size/body

decreased body size ( J:5999 )

• runted compared with normal siblings by one week old

Allelic Composition	Ptpn6^me/Ptpn6^me
Genetic Background	involves: C3HeB/FeJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn6^me mutation (2 available); any Ptpn6 mutation (47 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:72655 )

• death at around 3 weeks of age involving intra alveolar hemorrhage

growth/size/body

decreased body weight ( J:72655 )

• about half of controls

nervous system

abnormal nervous system morphology ( J:72655 )

decreased brain size ( J:72655 )

• length and width decreased

• weight normal

abnormal forebrain morphology ( J:72655 )

abnormal hippocampus development ( J:72655 )

• scattered areas of focal necrosis

abnormal telencephalon development ( J:72655 )

• scattered areas of focal necrosis in the cortex

abnormal hippocampus CA1 region morphology ( J:72655 )

• about 20% more neurons present

abnormal CNS glial cell morphology ( J:72655 )

abnormal microglial cell morphology ( J:72655 )

• F4/80+ microglial cells are reduced in number

abnormal astrocyte morphology ( J:72655 )

• GFAP+ astrocytes decreased about 50% on both the hippocampus and the forebrain fiber tracts

abnormal myelination ( J:72655 )

• decreased

respiratory system

abnormal pulmonary alveolar system morphology ( J:72655 )

• intra alveolar hemorrhage around 3 weeks of age leading to death

hematopoietic system

abnormal microglial cell morphology ( J:72655 )

• F4/80+ microglial cells are reduced in number

immune system

abnormal microglial cell morphology ( J:72655 )

• F4/80+ microglial cells are reduced in number

Allelic Composition	Ptpn6^me/Ptpn6^me
Genetic Background	involves: C3H/HeN * C57BL/6J * NFS

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn6^me mutation (2 available); any Ptpn6 mutation (47 available)

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

mortality/aging

premature death ( J:30994 )

• Background Sensitivity: life span about 8 weeks whereas on a C57BL/6 background survival is about 3 weeks

• Background Sensitivity: occasional survival to 16 weeks on an NFS or C3H background for larger individuals

growth/size/body

decreased body weight ( J:30994 )

• weigh about 66% of control weight

limbs/digits/tail

absent limbs ( J:30994 )

• autoamputation of 2-3 extremities by 8 weeks of age

integument

abnormal skin condition ( J:30994 )

• cutaneous granulomatous lesions at 8 weeks

cellular

increased splenocyte proliferation ( J:30994 )

• lack of stimulatory effect of ConA

hematopoietic system

increased splenocyte proliferation ( J:30994 )

• lack of stimulatory effect of ConA

increased IgM level ( J:30994 )

• increased secretion by splenocytes in culture

• serum levels elevated relative to controls

immune system

increased splenocyte proliferation ( J:30994 )

• lack of stimulatory effect of ConA

increased IgM level ( J:30994 )

• increased secretion by splenocytes in culture

• serum levels elevated relative to controls

increased autoantibody level ( J:30994 )

Allelic Composition	Btk^xid/? Ptpn6^me/Ptpn6^me
Genetic Background	involves: C57BL/6J * CBA/N * NFS

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btk^xid mutation (3 available); any Btk mutation (22 available)
Ptpn6^me mutation (2 available); any Ptpn6 mutation (47 available)

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

mortality/aging

premature death ( J:30994 )

• Background Sensitivity: life span about 8 weeks whereas on a C57BL/6 background survival is about 3 weeks

growth/size/body

decreased body weight ( J:30994 )

• weigh about 66% of control weight

limbs/digits/tail

absent limbs ( J:30994 )

• autoamputation of 2-3 extremities by 8 weeks of age

integument

abnormal skin condition ( J:30994 )

• cutaneous granulomatous lesions at 8 weeks

immune system

increased splenocyte proliferation ( J:30994 )

• lack of stimulatory effect of ConA

increased IgM level ( J:30994 )

• increased secretion by splenocytes in culture

• serum levels considerably lower than Ptpn6^me/me controls

increased autoantibody level ( J:30994 )

• very slightly elevated relative to controls

cellular

increased splenocyte proliferation ( J:30994 )

• lack of stimulatory effect of ConA

hematopoietic system

increased splenocyte proliferation ( J:30994 )

• lack of stimulatory effect of ConA

increased IgM level ( J:30994 )

• increased secretion by splenocytes in culture

• serum levels considerably lower than Ptpn6^me/me controls

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