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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nf1tm1Par
targeted mutation 1, Luis F Parada
MGI:2176057
Summary 28 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Nf1tm1Par/Nf1tm1Par involves: 129S1/Sv * 129X1/SvJ MGI:5292548
cn2
Lrrc17tm1Nik/Lrrc17+
Nf1tm1Par/Nf1tm1Par
Srpk2tm1Nik/Srpk2+
Tg(Mx1-cre)1Cgn/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:4460776
cn3
Nf1tm1Par/Nf1+
Ptentm1Hwu/Pten+
Trp53tm1Tyj/Trp53+
Tg(GFAP-cre)25Mes/0
involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJae * 129X1/SvJ * FVB/N MGI:4840094
cn4
Nf1tm1Par/Nf1tm1Tyj
Tg(Postn-cre)1Sjc/0
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ MGI:3776057
cn5
Nf1tm1Par/Nf1+
Trp53tm1Tyj/Trp53+
Tg(GFAP-cre)25Mes/0
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * FVB/N MGI:4840090
cn6
Nf1tm1Par/Nf1+
Ptentm1Hwu/Pten+
Tg(Gfap-cre)77.6Mvs/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c * C57BL/6NHsd MGI:4849443
cn7
Nf1tm1Par/Nf1+
Ptentm1Hwu/Pten+
Trp53tm1Elee/Trp53+
Tg(GFAP-cre)25Mes/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * FVB/N MGI:4840096
cn8
Nf1tm1Par/Nf1+
Trp53tm1Elee/Trp53+
Tg(GFAP-cre)25Mes/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * FVB/N MGI:4840095
cn9
Cdkn2atm4Rdp/Cdkn2atm4Rdp
Nf1tm1Par/Nf1tm1Par
involves: 129S1/Sv * 129X1/SvJ MGI:5792147
cn10
Nf1tm1Par/Nf1tm1Par
Tg(Mpz-cre)94Imeg/0
involves: 129S1/Sv * 129X1/SvJ MGI:3710235
cn11
Nf1tm1Par/Nf1tm1Par
Tg(Gfap-cre)77.6Mvs/0
involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6NHsd MGI:4849442
cn12
Nf1tm1Par/Nf1tm1Par
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:3710237
cn13
Nf1tm1Par/Nf1tm1Par
Tg(Syn1-cre)671Jxm/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:2176767
cn14
Nf1tm1Par/Nf1tm1Par
Tg(Mx1-cre)1Cgn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:5544056
cn15
Nf1tm1Par/Nf1tm1Par
Tg(Fabp7-cre,-lacZ)3Gtm/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:3810648
cn16
Nf1tm1Par/Nf1+
Tg(Fabp7-cre,-lacZ)3Gtm/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:3810649
cn17
Gt(ROSA)26Sortm1Fia/Gt(ROSA)26Sor+
Nf1tm1Par/Nf1tm1Par
Tg(Fabp7-cre,-lacZ)3Gtm/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:3810651
cn18
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * SJL/J MGI:5493228
cn19
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5492109
cn20
Nf1tm1Par/Nf1tm1Par
Tg(Pax3-cre)1Joe/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:3710236
cn21
Nf1tm1Par/Nf1tm1Par
Tg(Tek-cre)1Ywa/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:3710234
cn22
Nf1tm1Fcr/Nf1tm1Par
Pax3tm1(cre)Joe/Pax3+
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ MGI:3689705
cn23
Nf1tm1Par/Nf1tm1Fcr
Tg(GFAP-cre)#Gtm/0
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:4838320
cn24
Gt(ROSA)26Sortm1Fia/Gt(ROSA)26Sor+
Nf1tm1Fcr/Nf1tm1Par
Tg(Tek-cre)1Ywa/0
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:3689708
cn25
Nf1tm1Fcr/Nf1tm1Par
Tg(Tek-cre)1Ywa/0
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:3689709
cn26
Nf1tm1Par/Nf1tm1Tyj
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129/Sv * C57BL/6 * CBA MGI:3776056
cn27
Nf1tm1Par/Nf1tm1Tyj
Tg(Mpz-cre)1Brn/0
involves: 129/Sv * FVB/N MGI:3776064
cx28
Nf1tm1Par/Nf1tm1Par
Rnf7Gt(XE423)Byg/Rnf7Gt(XE423)Byg
involves: 129 * C57BL/6 MGI:5301658


Genotype
MGI:5292548
cn1
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• astrocytes transfected with a cre-expresing adenovirus exhibit increased proliferation compared to in control cells




Genotype
MGI:4460776
cn2
Allelic
Composition
Lrrc17tm1Nik/Lrrc17+
Nf1tm1Par/Nf1tm1Par
Srpk2tm1Nik/Srpk2+
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrrc17tm1Nik mutation (0 available); any Lrrc17 mutation (21 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Srpk2tm1Nik mutation (0 available); any Srpk2 mutation (47 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• in pIpC-treated mice with the same timing as in pIpC-treated Nf1tm1Par/Nf1tm1Par Tg(Mx1-cre)1Cgn mice

immune system
• pIpC-treated mice develop myeloproliferative disorder with anemia unlike wild-type mice that is similar to in pIpC-treated Nf1tm1Par/Nf1tm1Par Tg(Mx1-cre)1Cgn mice

hematopoietic system
• pIpC-treated mice develop myeloproliferative disorder with anemia unlike wild-type mice that is similar to in pIpC-treated Nf1tm1Par/Nf1tm1Par Tg(Mx1-cre)1Cgn mice




Genotype
MGI:4840094
cn3
Allelic
Composition
Nf1tm1Par/Nf1+
Ptentm1Hwu/Pten+
Trp53tm1Tyj/Trp53+
Tg(GFAP-cre)25Mes/0
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJae * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Ptentm1Hwu mutation (16 available); any Pten mutation (88 available)
Tg(GFAP-cre)25Mes mutation (2 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (240 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die as early as 10 weeks of age, and usually within a week of showing signs of morbidity

behavior/neurological
• exaggerated startle response
• ataxic gait
• generalized motor seizures

nervous system
• generalized motor seizures
• gliomas from asymptomatic mutants are primarily classified as grade 3 astocytomas
• 5-fold higher growth rate of astrocytomas compared with tumors from transgenic mice heterozygous for Nf1tm1Par and Trp53tm1Tyj and hemizygous for Tg(GFAP-cre)25Mes

neoplasm
• gliomas from asymptomatic mutants are primarily classified as grade 3 astocytomas
• 5-fold higher growth rate of astrocytomas compared with tumors from transgenic mice heterozygous for Nf1tm1Par and Trp53tm1Tyj and hemizygous for Tg(GFAP-cre)25Mes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
malignant astrocytoma DOID:3069 J:134611




Genotype
MGI:3776057
cn4
Allelic
Composition
Nf1tm1Par/Nf1tm1Tyj
Tg(Postn-cre)1Sjc/0
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (161 available)
Tg(Postn-cre)1Sjc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 6 of 32 mice survived beyond 4 weeks of age

neoplasm
N
• unlike mice crossed to Tg(P0-Cre)1Gth tumors are not seen in surviving adults

embryo
• increase in the frequency of neural crest stem cells in the sympathetic chain and sciatic nerve, but not the gut, at E15 but not in surviving adults

nervous system
• increase in the frequency of neural crest stem cells in the sympathetic chain and sciatic nerve, but not the gut, at E15 but not in surviving adults




Genotype
MGI:4840090
cn5
Allelic
Composition
Nf1tm1Par/Nf1+
Trp53tm1Tyj/Trp53+
Tg(GFAP-cre)25Mes/0
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(GFAP-cre)25Mes mutation (2 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (240 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants survive up to 8 weeks beyond initial appearance of symptoms

neoplasm
• complete penetrance of malignant astrocytomas
• gliomas from asymptomatic mutants are primarily classified as grade 2 astocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci

nervous system
• complete penetrance of malignant astrocytomas
• gliomas from asymptomatic mutants are primarily classified as grade 2 astocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
malignant astrocytoma DOID:3069 J:134611




Genotype
MGI:4849443
cn6
Allelic
Composition
Nf1tm1Par/Nf1+
Ptentm1Hwu/Pten+
Tg(Gfap-cre)77.6Mvs/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c * C57BL/6NHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Ptentm1Hwu mutation (16 available); any Pten mutation (88 available)
Tg(Gfap-cre)77.6Mvs mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• mutants do not develop tumors




Genotype
MGI:4840096
cn7
Allelic
Composition
Nf1tm1Par/Nf1+
Ptentm1Hwu/Pten+
Trp53tm1Elee/Trp53+
Tg(GFAP-cre)25Mes/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Ptentm1Hwu mutation (16 available); any Pten mutation (88 available)
Tg(GFAP-cre)25Mes mutation (2 available)
Trp53tm1Elee mutation (0 available); any Trp53 mutation (240 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die as early as 10 weeks of age, and usually within a week of showing signs of morbidity

behavior/neurological
• exaggerated startle response
• ataxic gait
• generalized motor seizures

nervous system
• generalized motor seizures
• mutants develop astrocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci

neoplasm
• mutants develop astrocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci




Genotype
MGI:4840095
cn8
Allelic
Composition
Nf1tm1Par/Nf1+
Trp53tm1Elee/Trp53+
Tg(GFAP-cre)25Mes/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(GFAP-cre)25Mes mutation (2 available)
Trp53tm1Elee mutation (0 available); any Trp53 mutation (240 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants survive up to 8 weeks beyond initial appearance of symptoms

behavior/neurological
• exaggerated startle response
• ataxic gait
• generalized motor seizures

nervous system
• generalized motor seizures
• mutants develop astrocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci

neoplasm
• mutants develop astrocytomas
• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
malignant astrocytoma DOID:3069 J:134611




Genotype
MGI:5792147
cn9
Allelic
Composition
Cdkn2atm4Rdp/Cdkn2atm4Rdp
Nf1tm1Par/Nf1tm1Par
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2atm4Rdp mutation (0 available); any Cdkn2a mutation (67 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• mice injected intramuscularly with an adenovirus expressing cre recombinase (Ad-Cre) develop soft-tissue sarcomas in the region 3 to 12 months after cre exposure
• intramuscular injections of Ad-cre generates a spectrum of high-grade spindle cell sarcomas, including rhabdomyosarcoma and undifferentiated pleomorphic sarcoma
• tumors from both intramuscular and sciatic nerve Ad-Cre injected mice show significant infiltration of mast cells
• tumors arising from intramuscular Ad-Cre injection show higher proliferation than tumors arising from sciatic nerve Ad-Cre injection
• treatment of tumor cells isolated from intramuscularly Ad-Cre injected mice with the MEK inhibitor PD325901results in decreases colony-forming units and cell proliferation
• treatment of Ad-Cre intramuscularly injected mice with the MEK inhibitor PD325901 delays tumor growth, reduces proliferative index of tumors, and decreases CD31+ microvessel density but does not alter mast cell levels in tumors
• intramuscularly Ad-Cre injected mice develop rhabdomyosarcoma
• mice injected with Ad-Cre in the sciatic nerve develop malignant peripheral nerve sheath tumors in the region at a mean time of 4.1 months after cre exposure

muscle
• intramuscularly Ad-Cre injected mice develop rhabdomyosarcoma

nervous system
• mice injected with Ad-Cre in the sciatic nerve develop malignant peripheral nerve sheath tumors in the region at a mean time of 4.1 months after cre exposure

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sarcoma DOID:1115 J:234760




Genotype
MGI:3710235
cn10
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Mpz-cre)94Imeg/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Mpz-cre)94Imeg mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

respiratory system
• pups do not initiate normal respiration

nervous system
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma

endocrine/exocrine glands
• a thinning and distortion of the adrenal cortex
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

neoplasm
• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma

cardiovascular system
N
• normal cardiac development

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:80323




Genotype
MGI:4849442
cn11
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Gfap-cre)77.6Mvs/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6NHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Gfap-cre)77.6Mvs mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• mutants do not develop tumors




Genotype
MGI:3710237
cn12
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

respiratory system
• pups do not initiate normal respiration

nervous system
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma

endocrine/exocrine glands
• a thinning and distortion of the adrenal cortex
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

neoplasm
• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma

cardiovascular system
N
• normal cardiac development

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:80323




Genotype
MGI:2176767
cn13
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Syn1-cre)671Jxm/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Syn1-cre)671Jxm mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• body weight and size are about 50% of normal
• 3-4 days after birth, mice begin to exhibit growth retardation that is sustained into adulthood

nervous system
• forebrain, but not the rest of the brain, is reduced in size, however mice exhibit normal neuronal development
• increase in cell density in the cerebral cortex, often resulting in less apparent lamination
• about 20% reduction in coritcal thickness
• mice display astrogliosis in various brain regions, however do not develop neuronal degeneration or microgliosis

behavior/neurological
• mice display severe learning disability

neoplasm
N
• no evidence of tumors; optic gliomas, astrocytomas, or neurofibroma are not observed

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:68558




Genotype
MGI:5544056
cn14
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% of pIpC treated mice die by 7.5 months of age

hematopoietic system
• pIpC injected mice at 3 to 5 days of age develop overt signs of myeloproliferative disease beginning between 5 and 6 months of age
• pIpC injected mice show a shift in hematopoiesis from the marrow to the spleen
• myeloid progenitors from pIpC injected mice show increased proliferation
• spleen from pIpC injected mice shows a massive increase in myelopoiesis
• apoptosis is reduced in the bone marrow of pIpC injected mice
• bone marrow from pIpC injected mice is highly cellular, comprised of myeloid cells at various stages of differentiation
• increase in numbers of immature monocytic cells in the bone marrow of pIpC treated mice
• bone marrow from pIpC injected mice contains elevated numbers of CFU-GM and an increase in the numbers of CFU-GM that are hypersensitive to granulocyte-macrophage colony stimulating factor (GM-CSF) and CFU-GM colonies are larger than normal and show abnormal spreading morphology
• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated lymphoid cells by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit elevated leukocyte counts by 3 months of age
• cultures from pIpC injected mice show an increase in the percentage of monocyte-macrophage cells
• pIpC injected mice show an increase in numbers of differentiated granulocytic cells
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal neutrophils by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal lymphocytes by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal monocytes by 3 months of age
• pIpC injected mice show an increase in numbers of immature monocytic cells in the bone marrow
• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated myeloid cells by 3 months of age
• spleens from pIpC injected mice contain large numbers of CFU-GM
• pIpC injected mice at 3 to 5 days of age exhibit progressive splenomegaly with extensive infiltration of myeloid cells at various stages of maturation

behavior/neurological
• pIpC injected mice at 3 to 5 days of age exhibit abnormal gait by 5-6 months of age
• pIpC injected mice at 3 to 5 days of age exhibit hunching by 5-6 months of age

immune system
• spleen from pIpC injected mice shows a massive increase in myelopoiesis
• pIpC injected mice at 3 to 5 days of age exhibit elevated leukocyte counts by 3 months of age
• cultures from pIpC injected mice show an increase in the percentage of monocyte-macrophage cells
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal lymphocytes by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated myeloid cells by 3 months of age
• pIpC injected mice show an increase in numbers of differentiated granulocytic cells
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal neutrophils by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal monocytes by 3 months of age
• pIpC injected mice show an increase in numbers of immature monocytic cells in the bone marrow
• spleens from pIpC injected mice contain large numbers of CFU-GM
• pIpC injected mice at 3 to 5 days of age exhibit progressive splenomegaly with extensive infiltration of myeloid cells at various stages of maturation

integument
• pIpC injected mice at 3 to 5 days of age have a disheveled appearance by 5-6 months of age

growth/size/body
• pIpC injected mice at 3 to 5 days of age exhibit progressive splenomegaly with extensive infiltration of myeloid cells at various stages of maturation

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
juvenile myelomonocytic leukemia DOID:0050458 OMIM:607785
J:90973




Genotype
MGI:3810648
cn15
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Fabp7-cre,-lacZ)3Gtm/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Fabp7-cre,-lacZ)3Gtm mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mice survive beyond 3 months of age
• the majority of pups fail to survive to weaning
• median survival is 18 days

nervous system
N
• brain weight is not significantly decreased and the major anatomical areas of the forebrain are not significantly different from controls
• significantly smaller than control littermates
• however, the posterior lobe is similar in size to that in controls
• 3-fold reduction in proliferating cells in the anterior lobe of the pituitary gland
• no change in proliferation in the posterior lobe
• increases in the numbers of Olig2+ glial and BLBP+ neuroglial progenitors are seen throughout the brain
• expression analysis indicates abnormalities in development and differentiation of neocortical neurons
• at 1 week of age, an increase in proliferating cells is seen in the CA2/3 region
• however, when normalized to the number of progenitor cellsno increase in the percentage of proliferating cells is detected
• decrease in the distance between the corpus callosum and the brain surface in the secondary somatosensory cortex indicating a reduction in cortex thickness
• pre- and post-natal treatment with Rolipram restores normal somatosensory cortical thickness
• increase in the number of NG2+ glial cells in the brain including the somatosensory cortex
• increase in the number of GFAP+ astrocytes in the brain
• gene-dose dependent increase in the number of astrocytes in the CA1 region of the hippocampus
• increase in the number of APC+ oligodendroglial cells in the brain including the fimbria
• apical dendrites of layer II/III pyramidal neurons in the somatosensory cortex are shorter compared to littermate controls
• pre- and post-natal treatment with Rolipram partially restores neurite length
• decrease in intracellular cAMP levels in the brain
• increase in proliferation at E13.5 and to a lesser extent at E17.5 primarily in neuroglial progenitor cells
• significant reduction in growth hormone and prolactin mRNA levels
• 50% reduction in cAMP levels in hypothalamic homogenates

growth/size/body
• greater than 60% reduction in body weight compared to controls by 3 weeks of age (J:138868)
• weigh about 30% of the weight of control littermates at 2 - 3 months of age (J:138868)
• Rolipram treatment increases body weight but mice are still smaller than controls (J:138868)
• at P18, weight is less than 50% that of control littermates (J:139866)
• severe growth retardation develops during the first week after birth (J:138868)
• develop progressive growth retardation from P3 (J:139866)
• all major organ systems, except the central nervous system, display growth retardation at P18 (J:139866)

endocrine/exocrine glands
• significantly smaller than control littermates
• however, the posterior lobe is similar in size to that in controls
• 3-fold reduction in proliferating cells in the anterior lobe of the pituitary gland
• no change in proliferation in the posterior lobe
• significant reduction in growth hormone and prolactin mRNA levels

homeostasis/metabolism
• decrease in growth hormone releasing hormone levels in the primary capillaries of the hypophyseal portal system
• a 65% reduction in liver Igf1 mRNA levels indicates a reduction in circulating growth hormone levels

behavior/neurological
• extreme sensitivity to handling
• limited range of movement of the hindlimbs

cellular
• increase in proliferation at E13.5 and to a lesser extent at E17.5 primarily in neuroglial progenitor cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:138868




Genotype
MGI:3810649
cn16
Allelic
Composition
Nf1tm1Par/Nf1+
Tg(Fabp7-cre,-lacZ)3Gtm/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Fabp7-cre,-lacZ)3Gtm mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• gene-dose dependent increase in the number of astrocytes in the CA1 region of the hippocampus




Genotype
MGI:3810651
cn17
Allelic
Composition
Gt(ROSA)26Sortm1Fia/Gt(ROSA)26Sor+
Nf1tm1Par/Nf1tm1Par
Tg(Fabp7-cre,-lacZ)3Gtm/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Fia mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Fabp7-cre,-lacZ)3Gtm mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• significantly smaller than control littermates

growth/size/body

endocrine/exocrine glands
• significantly smaller than control littermates

homeostasis/metabolism
• reduction in liver Igf1 mRNA levels indicates a reduction in circulating growth hormone levels




Genotype
MGI:5493228
cn18
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls
• mutants exhibit delayed and defective fracture healing characterized by diminished cartilaginous callus formation, increased bone formation near the cortical bone on the periosteum but not in the fracture gap, and persistence of cartilage at day 21 such that bony bridging is not observed
• while total callus volume following fracture is larger in mutants at day 7 and 10 due to rapid initial growth of fibrous tissue (desmal type ossification), by day 14 and 21, the total callus volume is significantly smaller
• accumulation and persistence of fibrous tissue in the fracture gap, with increased numbers of osteoclasts
• increase in number of blood vessels in mutant fractures (in callus) compared to controls, indicating increased vascularization of the fracture tissue, however no osteogenesis results from this increased vascularization
• ectopic fat tissue is seen in the fracture site
• decrease of regenerative tissue bone mineral density following fracture
• dramatic cortical bone thickening following fracture
• fewer osteoblasts are seen within the fracture gap throughout healing compared to controls, however, osteoblast number is increased at the periosteal surface
• bone fractures exhibit impaired cartilage formation and increased periosteal ossification at the cortices
• presence of large areas of non-mineralized osteoid in the fracture gap, indicating decreased mineralization of the extracellular matrix
• thickening of the osteoid layer in the periosteal region following fracture
• endochondrial formation is impaired following fracture but periosteal bone formation is enhanced
• bones are weaker; femora show lower torsional stiffness and ultimate torque at failure compared to controls
• fractured bones of mutants that are allowed to heal also exhibit a lower torsional stiffness and ultimate torque at failure compared to controls

homeostasis/metabolism
• mutants exhibit delayed and defective fracture healing characterized by diminished cartilaginous callus formation, increased bone formation near the cortical bone on the periosteum but not in the fracture gap, and persistence of cartilage at day 21 such that bony bridging is not observed
• while total callus volume following fracture is larger in mutants at day 7 and 10 due to rapid initial growth of fibrous tissue (desmal type ossification), by day 14 and 21, the total callus volume is significantly smaller
• accumulation and persistence of fibrous tissue in the fracture gap, with increased numbers of osteoclasts
• increase in number of blood vessels in mutant fractures (in callus) compared to controls, indicating increased vascularization of the fracture tissue, however no osteogenesis results from this increased vascularization
• ectopic fat tissue is seen in the fracture site

hematopoietic system
• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls

immune system
• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:193350




Genotype
MGI:5492109
cn19
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• weight is on average reduced by 25%

limbs/digits/tail
• short-limbed dwarfism, with mutants showing a reduction in entire limb size

muscle
• mutants exhibit muscle dystrophy
• large areas of dystrophic musculature are occupied by fat tissue
• muscle connective tissue shows increased proliferation at E14.5 and an increase in connective tissue in muscles is already seen at E16.5
• muscle fibers are thinned out at E16.5
• marker analysis indicates a defect in muscle formation at E13.5, with specific muscle primordial reduced in size or entirely missing; approximate 30% reduction in the m. triceps size and about 50% reduction in the m. gluteus maximus size of E13.5 embryos
• the m. latissimus dorsi appears smaller and shows rarefaction of muscle fibers
• distal muscle groups in the extremities are most affected, with some muscles completely missing, indicating that the muscle differentiation process is disturbed
• defect in myogenesis affecting the terminal differentiation of myoblasts between E12.5 and E14.5
• maker analysis indicates a severe disruption of myoblast terminal differentiation
• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen
• muscles show a 20% increase in the number of fibers with cleft-like invaginations (split fibers)
• muscle fiber size appears more variable than in controls, however no overt muscle regeneration is seen
• total number of muscle fibers is reduced by 50% in the triceps
• weight of triceps muscle is reduced by more than 50%
• reduction in muscle size and mass
• generalized muscle fibrosis, characterized by expansion of collagen-rich connective tissue, and reduction in total number of muscle fibers
• in the force gauge pull test, mice show a dramatic reduction in muscle force
• satellite cells exhibit normal self-renewal but impaired differentiation as indicated by diminished myotube formatio

cellular
• maker analysis indicates a severe disruption of myoblast terminal differentiation
• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:173779




Genotype
MGI:3710236
cn20
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Pax3-cre)1Joe/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Pax3-cre)1Joe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

respiratory system
• pups do not initiate normal respiration

nervous system
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma
• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma

endocrine/exocrine glands
• a thinning and distortion of the adrenal cortex
• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

neoplasm
• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma

cardiovascular system
N
• normal cardiac development

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:80323




Genotype
MGI:3710234
cn21
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Tek-cre)1Ywa mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 8 of 11 embryos exhibit a thinned myocardium
• 8 of 11 embryos show an enlarged atrioventricular cushion
• seen in 8 of 11 embryos
• 10 of 11 embryos exhibit ventricular septal defects

homeostasis/metabolism

muscle
• 8 of 11 embryos exhibit a thinned myocardium




Genotype
MGI:3689705
cn22
Allelic
Composition
Nf1tm1Fcr/Nf1tm1Par
Pax3tm1(cre)Joe/Pax3+
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Fcr mutation (3 available); any Nf1 mutation (161 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Pax3tm1(cre)Joe mutation (1 available); any Pax3 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

endocrine/exocrine glands
• medulla is overgrown compared with wild-type

nervous system
• peripheral ganglia are massively enlarged in newborns




Genotype
MGI:4838320
cn23
Allelic
Composition
Nf1tm1Par/Nf1tm1Fcr
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Fcr mutation (3 available); any Nf1 mutation (161 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas

immune system
• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas

nervous system
• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas
• mice develop optic gliomas in the optic chiasm/nerves
• optic gliomas appear as gross thickenings and enlargements of the pre-chiasmic nerve at 9 months of age
• irregularly shaped and thickened astrocytes are seen in the pre-chiasmatic optic nerves
• retinal ganglion cell loss in the middle and peripheral region
• optic gliomas form in the pre-chiasmatic optic nerve/optic chiasm, with increased vascularization to the area, abnormally shaped and thickened astrocytes, increase in microglia, and axonal and myelin degeneration
• mice exhibit abnormal optic nerve axon organization
• the optic chiasm/nerves at 9 months of age appear as gross fusiform enlargements that result in optic gliomas
• increase in vascularization in the pre-chiasmatic optic nerve and optic chiasm (and in the optic glioma)
• axonal and myelin degeneration are seen in the optic nerve
• increase in neoplastic astrocyte proliferation in the optic glioma
• disruption of the myelin is seen in the optic nerve, including degeneration and hypermyelination
• hypermyelination is seen in the optic nerve

neoplasm
• mice develop optic gliomas in the optic chiasm/nerves
• optic gliomas appear as gross thickenings and enlargements of the pre-chiasmic nerve at 9 months of age

vision/eye
• retinal ganglion cell loss in the middle and peripheral region
• optic gliomas form in the pre-chiasmatic optic nerve/optic chiasm, with increased vascularization to the area, abnormally shaped and thickened astrocytes, increase in microglia, and axonal and myelin degeneration
• mice exhibit abnormal optic nerve axon organization
• the optic chiasm/nerves at 9 months of age appear as gross fusiform enlargements that result in optic gliomas
• increase in vascularization in the pre-chiasmatic optic nerve and optic chiasm (and in the optic glioma)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:165209




Genotype
MGI:3689708
cn24
Allelic
Composition
Gt(ROSA)26Sortm1Fia/Gt(ROSA)26Sor+
Nf1tm1Fcr/Nf1tm1Par
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Fia mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Nf1tm1Fcr mutation (3 available); any Nf1 mutation (161 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Tek-cre)1Ywa mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 2 embryos are found at later stages, after expected midgestation lethality from cardiovascular failure

hematopoietic system
• splenic fibrosis is not observed
• mice display moderate splenic enlargement and partial rescue of splenic architecture
• germinal centers are present

immune system
• mice display moderate splenic enlargement and partial rescue of splenic architecture
• germinal centers are present
• splenic fibrosis is not observed

nervous system
• marked enlargement of dorsal root ganglia and other neural crest derived tissues is observed




Genotype
MGI:3689709
cn25
Allelic
Composition
Nf1tm1Fcr/Nf1tm1Par
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Fcr mutation (3 available); any Nf1 mutation (161 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Tek-cre)1Ywa mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• normal splenic architecture is lost
• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors
• germinal centers are absent
• splenic fibrosis is observed

immune system
• normal splenic architecture is lost
• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors
• germinal centers are absent
• splenic fibrosis is observed

growth/size/body
• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors




Genotype
MGI:3776056
cn26
Allelic
Composition
Nf1tm1Par/Nf1tm1Tyj
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (161 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• increase in the frequency of neural crest stem cells in the sympathetic chain, dorsal root ganglia, and sciatic nerve at E13 but not at E17 to E19

nervous system
• increase in the frequency of neural crest stem cells in the sympathetic chain, dorsal root ganglia, and sciatic nerve at E13 but not at E17 to E19




Genotype
MGI:3776064
cn27
Allelic
Composition
Nf1tm1Par/Nf1tm1Tyj
Tg(Mpz-cre)1Brn/0
Genetic
Background
involves: 129/Sv * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Nf1tm1Tyj mutation (3 available); any Nf1 mutation (161 available)
Tg(Mpz-cre)1Brn mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• neural crest stem cells do not abnormally persist in the peripheral nervous system in adult mice
• at 15 - 20 months of age, all 6 mice examined had plexiform neurofibromas compared to 0 fibromas in control littermates

neoplasm
• at 15 - 20 months of age, all 6 mice examined had plexiform neurofibromas compared to 0 fibromas in control littermates




Genotype
MGI:5301658
cx28
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Rnf7Gt(XE423)Byg/Rnf7Gt(XE423)Byg
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (161 available)
Rnf7Gt(XE423)Byg mutation (0 available); any Rnf7 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• partial rescue of apoptosis in the spinal cord compared to mice null for Rnf7 alone
• rescue of neuronal apoptosis compared to mice null for Rnf7 alone
• decrease in proliferation of neuronal precursor cells in the neocortex

cardiovascular system
• partial restoration of angiogenesis in the head compared to mice null for Rnf7 alone

embryo

growth/size/body





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory