All Phenotypes Hprt1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Hprt1⁺
wild type
MGI:2430929

Summary

31 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Hprt1^{tm1(Rcan1)Zyga}/Hprt1⁺	B6.129P2-Hprt1^{tm1(Rcan1)Zyga}	MGI:3850818
ht2	Hprt1^{tm1(Nphs1-CMIP)Dsah}/Hprt1⁺	B6.Cg-Hprt1^{tm1(Nphs1-CMIP)Dsah}	MGI:5428692
ht3	Hprt1^{tm2(CUX1)Anep}/Hprt1⁺	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * FVB)	MGI:4360518
ht4	Hprt1^{tm1(CUX1)Anep}/Hprt1⁺	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * FVB)	MGI:3687325
ht5	Hprt1^{tm1(CUX1)Anep}/Hprt1⁺	FVB.129P2-Hprt1^{tm1(CUX1)Anep}	MGI:4360519
ht6	Hprt1^{tm2(CUX1)Anep}/Hprt1⁺	FVB.129P2-Hprt1^{tm2(CUX1)Anep}	MGI:4360520
ht7	Hprt1^{tm1(CAG-NRIP1)Vcls}/Hprt1⁺	involves: 129 * C57BL/6	MGI:5574443
ht8	Hprt1^{tm1.1(CAG-Smpd1)Jhkh}/Hprt1⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:5523916
ht9	Hprt1^{tm1(Nfkb1-EGFP)Cjo}/Hprt1⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3815191
cn10	Miox^tm1Ysk/Miox^tm1Ysk Hprt1^{tm1(Pck1-cre)Vhh}/Hprt1⁺	B6.129-Miox^tm1Ysk Hprt1^{tm1(Pck1-cre)Vhh}	MGI:6267414
cn11	Agtr1a^tm1.1Cof/Agtr1a^tm1.1Cof Hprt1^{tm1(Pck1-cre)Vhh}/Hprt1⁺	involves: 129 * 129P2/OlaHsd	MGI:5007681
cn12	Hprt1^{tm2(CAG-TBX2,-EGFP)Akis}/Hprt1⁺ Tg(Myh6-cre)2182Mds/0	involves: 129 * FVB/N * NMRI	MGI:5314543
cn13	Hprt1^{tm1(CAG-BRF1)Gu}/Hprt1⁺ Kras^tm4Tyj/Kras⁺ Trp53^tm2Tyj/Trp53⁺ Tg(Pdx1-cre)6Tuv/0	involves: 129P2/OlaHsd * 129S4/SvJae * 129S7/SvEvBrd * FVB/N	MGI:6403693
cn14	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺ Hprt1^{tm1(Pbsn*-cre/ERT2)Jir}/Hprt1⁺	involves: 129P2/OlaHsd * 129S4/SvJaeSor	MGI:3831282
cn15	Brf1^tm1Arte/Brf1^tm1Arte Hprt1^{tm1(CAG-BRF1)Gu}/Hprt1⁺ Tg(Cyp1a1-cre)1Dwi/0	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:6403686
cn16	Hprt1^{tm1(Pck1-cre)Vhh}/Hprt1⁺ Tg(CAG-lacZ,-Miox)#Ysk/0	involves: 129P2/OlaHsd * C57BL/6J	MGI:6267415
cn17	Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺ Ptpn11^tm1Ckq/Ptpn11⁺	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J	MGI:5295464
cn18	Ext1^tm1Vcs/Ext1⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4437603
cn19	Gt(ROSA)26Sor^{tm1(sb11)Njen}/Gt(ROSA)26Sor⁺ Hprt1^{tm1(sb-Onco-Array)Peli}/Hprt1⁺	involves: 129S7/SvEvBrd	MGI:4843329
cn20	Hprt1^{tm2(Pgk1-Pac/TK)Brd}/Hprt1⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3772559
cn21	Porcn^tm1.1Vdv/Porcn⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺	involves: 129S/Sv * C57BL/6J	MGI:5435565
cn22	Gt(ROSA)26Sor^tm1Fia/Gt(ROSA)26Sor⁺ Hprt1^{tm1(CMV-cre)Brd}/Hprt1⁺ Nf1^tm1Fcr/Nf1^tm1Fcr	involves: 129S/SvEv * 129S/SvEvBrd	MGI:3689632
cn23	Gt(ROSA)26Sor^tm1Fia/Gt(ROSA)26Sor^tm1Fia Hprt1^{tm1(CMV-cre)Brd}/Hprt1⁺ Nf1^tm1Fcr/Nf1^tm1Fcr	involves: 129S/SvEv * 129S/SvEvBrd	MGI:3689697
cn24	Hprt1^{tm1(H1-RNAi:Tmsb4x)Prri}/Hprt1⁺ Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5487451
cx25	Hprt1^{tm1(tetO-Runx1,-EGFP)Enk}/Hprt1⁺ Sox10^tm2(rtTA)Weg/Sox10⁺	involves: 129P2/OlaHsd	MGI:4840038
cx26	Hprt1^{tm1(Camk2a-APPSweLon,-MAPTP301LR406W)Geno}/Hprt1⁺ Tg(PSEN1)5Dbo/0	involves: 129P2/OlaHsd	MGI:5428425
cx27	Hprt1^tm3Brd/Hprt1⁺ Myo7a^4626SB/Myo7a^4626SB	involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca	MGI:3810334
cx28	Hprt1^tm2Brd/Hprt1⁺ Myo7a^4626SB/Myo7a^4626SB	involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca	MGI:3810333
cx29	Hprt1^{tm2(UAS-Bmp4)Bhr}/Hprt1⁺ Tg(Wnt1-GAL4)1Rth/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:3047260
cx30	Hprt1^{tm1(UAS-Bmp4)Bhr}/Hprt1⁺ Tg(Wnt1-GAL4)1Rth/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:3047259
cx31	Gdpd2^tm1.1Soc/Gdpd2⁺ Hprt1^{tm1(CMV-GFP)Nat}/Hprt1⁺	involves: 129/Sv * 129P2 /SvPas * 129S * BALB/cJ * C57BL/6J	MGI:6487970

Allelic Composition	Hprt1^{tm1(Rcan1)Zyga}/Hprt1⁺
Genetic Background	B6.129P2-Hprt1^{tm1(Rcan1)Zyga}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(Rcan1)Zyga} mutation (0 available); any Hprt1 mutation (1274 available)

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

neoplasm

decreased tumor growth/size ( J:150286 )

• transplanted Lewis lung and B16F10 tumor cells exhibit growth suppression with reduced microvessel density compared to tumor cells transplanted into wild-type mice

cellular

decreased vascular endothelial cell proliferation ( J:150286 )

• endothelial cell proliferation in response to VEGF is decreased compared to similarly treated wild-type cells

• DYRK1A suppression of VEGF-mediated endothelial proliferation is enhanced compared to in similarly treated wild-type cells

cardiovascular system

decreased vascular endothelial cell proliferation ( J:150286 )

• endothelial cell proliferation in response to VEGF is decreased compared to similarly treated wild-type cells

• DYRK1A suppression of VEGF-mediated endothelial proliferation is enhanced compared to in similarly treated wild-type cells

hematopoietic system

increased megakaryocyte cell number ( J:197570 )

• increase in megakaryocytes in hematopoietic tissues

• increase in mature CD41+ CD42+ megakaryocytes

abnormal megakaryocyte progenitor cell morphology ( J:197570 )

• megakaryocyte precursors show increased proliferation

• increase in bipotential megakaryocyte/erythroid progenitors

• decrease in committed megakaryocyte progenitors (an intermediate between the bipotential precursor and fully mature platelet)

• cell-cycle progression genes are upregulated in megakaryocyte progenitors suggesting rapid cycling through the committed megakaryocyte progenitor phase

thrombocytosis ( J:197570 )

Allelic Composition	Hprt1^{tm1(Nphs1-CMIP)Dsah}/Hprt1⁺
Genetic Background	B6.Cg-Hprt1^{tm1(Nphs1-CMIP)Dsah}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(Nphs1-CMIP)Dsah} mutation (0 available); any Hprt1 mutation (1274 available)

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

renal/urinary system

increased mesangial cell number ( J:185411 )

• at 6 months in some glomeruli

increased urine protein level ( J:185411 )

albuminuria ( J:185411 )

abnormal podocyte morphology ( J:185411 )

• flattened and widened

podocyte foot process effacement ( J:185411 )

abnormal podocyte slit diaphragm morphology ( J:185411 )

• narrow in most glomeruli

absent podocyte slit diaphragm ( J:185411 )

• in some areas

expanded mesangial matrix ( J:185411 )

• at 1 year in some glomeruli

glomerulosclerosis ( J:185411 )

• some focal and segmental glomerulosclerosis lesions at 1 year in some glomeruli

homeostasis/metabolism

increased urine protein level ( J:185411 )

albuminuria ( J:185411 )

cellular

increased mesangial cell number ( J:185411 )

• at 6 months in some glomeruli

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrotic syndrome		DOID:1184		J:185411

Allelic Composition	Hprt1^{tm2(CUX1)Anep}/Hprt1⁺
Genetic Background	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * FVB)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm2(CUX1)Anep} mutation (0 available); any Hprt1 mutation (1274 available)

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

immune system

immune system phenotype ( J:113393 )

N	• unlike Hprt1^{tm1(Cutl1)Anep} homozygotes, mice do not exhibit myeloproliferative disease

Allelic Composition	Hprt1^{tm1(CUX1)Anep}/Hprt1⁺
Genetic Background	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * FVB)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(CUX1)Anep} mutation (0 available); any Hprt1 mutation (1274 available)

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

hematopoietic system

abnormal hematopoietic system morphology/development ( J:113393 )

• 33% of female mice develop a hematopoietic disorder and display enlarged spleens

enlarged spleen ( J:113393 )

spleen hyperplasia ( J:113393 )

• spleen enlargement results from myeloid hyperplasia

myeloid hyperplasia ( J:113393 )

anemia ( J:113393 )

decreased erythrocyte cell number ( J:113393 )

• number of red blood cells is significantly decreased

decreased hematocrit ( J:113393 )

• hematocrit is significantly decreased

decreased mean corpuscular hemoglobin concentration ( J:113393 )

• hemoglobin concentration is significantly decreased

decreased B cell number ( J:113393 )

• B cells are underrepresented in spleen, bone marrow, liver and blood of transgenic mice

increased leukocyte cell number ( J:113393 )

• WBC numbers are significantly increased; in most cases, increase is due to increased neutrophil numbers

increased neutrophil cell number ( J:113393 )

• there is an excess of neutrophils in blood, spleen, bone marrow and liver of mice, as wel as lungs and kidneys in many cases

abnormal spleen white pulp morphology ( J:113393 )

• regions of white pulp are seen to be compressed

abnormal splenic cell ratio ( J:113393 )

• spleens contain large number of cells resembling polymorphonuclear leukocytes; neutrophils, granulocytes and megakaryocytes are present in increased numbers compared to wild-type

abnormal hematopoietic system physiology ( J:113393 )

• transgenic mice (33% incidence) are ~4 times more susceptible to the hematopoietic disorder than non transgenic littermates (8.6% incidence)

immune system

enlarged spleen ( J:113393 )

spleen hyperplasia ( J:113393 )

• spleen enlargement results from myeloid hyperplasia

myeloid hyperplasia ( J:113393 )

decreased B cell number ( J:113393 )

• B cells are underrepresented in spleen, bone marrow, liver and blood of transgenic mice

increased leukocyte cell number ( J:113393 )

• WBC numbers are significantly increased; in most cases, increase is due to increased neutrophil numbers

increased neutrophil cell number ( J:113393 )

• there is an excess of neutrophils in blood, spleen, bone marrow and liver of mice, as wel as lungs and kidneys in many cases

abnormal spleen white pulp morphology ( J:113393 )

• regions of white pulp are seen to be compressed

abnormal splenic cell ratio ( J:113393 )

• spleens contain large number of cells resembling polymorphonuclear leukocytes; neutrophils, granulocytes and megakaryocytes are present in increased numbers compared to wild-type

enlarged lymph nodes ( J:113393 )

• one mouse had enlarged lymph nodes containing mostly B cells

liver/biliary system

abnormal liver morphology ( J:113393 )

• livers of sick mice have unusual color and texture; there is an overrepresentation of leukocytes in the livers

respiratory system

abnormal lung morphology ( J:113393 )

• lungs of sick mice have unusual color and texture; there is an overrepresentation of leukocytes in the livers

growth/size/body

enlarged spleen ( J:113393 )

spleen hyperplasia ( J:113393 )

• spleen enlargement results from myeloid hyperplasia

Allelic Composition	Hprt1^{tm1(CUX1)Anep}/Hprt1⁺
Genetic Background	FVB.129P2-Hprt1^{tm1(CUX1)Anep}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(CUX1)Anep} mutation (0 available); any Hprt1 mutation (1274 available)

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

endocrine/exocrine glands

abnormal branching of the mammary ductal tree ( J:152682 )

• at 5 weeks, ductal outgrowth is faster than in wild-type mice

• however, at 3 months mammary gland development is normal

increased mammary gland tumor incidence ( J:152682 )

• after 2 years, 33% of female mice develop mammary carcinomas compared to 22% of wild-type mice

• 12% of mice exhibit an average tumor latency of 20.5 months compared with 3% of wild-type mice

• mammary tumors include solid carcinomas with or without papillary differentiation (29%) and adenosquamous carcinomas (71%)

• 3 mice with primary solid carcinoma exhibit metastasis to the lungs

increased mammary adenocarcinoma incidence ( J:152682 )

neoplasm

increased mammary gland tumor incidence ( J:152682 )

• after 2 years, 33% of female mice develop mammary carcinomas compared to 22% of wild-type mice

• 12% of mice exhibit an average tumor latency of 20.5 months compared with 3% of wild-type mice

• mammary tumors include solid carcinomas with or without papillary differentiation (29%) and adenosquamous carcinomas (71%)

• 3 mice with primary solid carcinoma exhibit metastasis to the lungs

increased mammary adenocarcinoma incidence ( J:152682 )

integument

abnormal branching of the mammary ductal tree ( J:152682 )

• at 5 weeks, ductal outgrowth is faster than in wild-type mice

• however, at 3 months mammary gland development is normal

increased mammary gland tumor incidence ( J:152682 )

• after 2 years, 33% of female mice develop mammary carcinomas compared to 22% of wild-type mice

• 12% of mice exhibit an average tumor latency of 20.5 months compared with 3% of wild-type mice

• mammary tumors include solid carcinomas with or without papillary differentiation (29%) and adenosquamous carcinomas (71%)

• 3 mice with primary solid carcinoma exhibit metastasis to the lungs

increased mammary adenocarcinoma incidence ( J:152682 )

Allelic Composition	Hprt1^{tm2(CUX1)Anep}/Hprt1⁺
Genetic Background	FVB.129P2-Hprt1^{tm2(CUX1)Anep}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm2(CUX1)Anep} mutation (0 available); any Hprt1 mutation (1274 available)

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

neoplasm

increased mammary gland tumor incidence ( J:152682 )

• after 2 years, 53% of female mice develop mammary carcinomas compared to 22% of wild-type mice

• 20% of mice exhibit an average tumor latency of 20.5 months compared with 3% of wild-type mice

• mammary tumors include solid carcinomas with or without papillary differentiation (56%), adenosquamous carcinomas (22%), adenomyoepithelioma (11%), and tubular/acinar adenoma (11%)

increased mammary adenocarcinoma incidence ( J:152682 )

integument

increased mammary gland tumor incidence ( J:152682 )

• after 2 years, 53% of female mice develop mammary carcinomas compared to 22% of wild-type mice

• 20% of mice exhibit an average tumor latency of 20.5 months compared with 3% of wild-type mice

• mammary tumors include solid carcinomas with or without papillary differentiation (56%), adenosquamous carcinomas (22%), adenomyoepithelioma (11%), and tubular/acinar adenoma (11%)

increased mammary adenocarcinoma incidence ( J:152682 )

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:152682 )

N	• mice exhibit normal mammary gland development

increased mammary gland tumor incidence ( J:152682 )

• after 2 years, 53% of female mice develop mammary carcinomas compared to 22% of wild-type mice

• 20% of mice exhibit an average tumor latency of 20.5 months compared with 3% of wild-type mice

• mammary tumors include solid carcinomas with or without papillary differentiation (56%), adenosquamous carcinomas (22%), adenomyoepithelioma (11%), and tubular/acinar adenoma (11%)

increased mammary adenocarcinoma incidence ( J:152682 )

Allelic Composition	Hprt1^{tm1(CAG-NRIP1)Vcls}/Hprt1⁺
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(CAG-NRIP1)Vcls} mutation (0 available); any Hprt1 mutation (1274 available)

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

digestive/alimentary system

decreased enterocyte apoptosis ( J:211324 )

• 2-fold decrease in apoptotic cells

abnormal enterocyte proliferation ( J:211324 )

• 3.7-fold decrease in cells synthesizing DNA compared with wild-type mice

abnormal small intestine morphology ( J:211324 )

• crypt to villus axis is decreased compared to in wild-type mice

• longer intestine compared with wild-type mice

• however, total surface area of intestinal epithelium is normal

abnormal Paneth cell morphology ( J:211324 )

• decreased differentiation

endocrine/exocrine glands

abnormal Paneth cell morphology ( J:211324 )

• decreased differentiation

cellular

decreased enterocyte apoptosis ( J:211324 )

• 2-fold decrease in apoptotic cells

abnormal enterocyte proliferation ( J:211324 )

• 3.7-fold decrease in cells synthesizing DNA compared with wild-type mice

Allelic Composition	Hprt1^{tm1.1(CAG-Smpd1)Jhkh}/Hprt1⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1.1(CAG-Smpd1)Jhkh} mutation (0 available); any Hprt1 mutation (1274 available)

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

homeostasis/metabolism

abnormal ceramide level ( J:199833 )

• high constitutive hippocampal ceramide concentrations

abnormal physiological response to xenobiotic ( J:199833 )

• decreased neurogenesis, neuronal maturation and survival in the absence or presence of amitriptyline and fluoxetine

• however, corticosterone stressed or nonstressed mice treated with amitriptyline and fluoxetine exhibit increased in neurogenesis, neuronal maturation and survival

• however, treatment with antidepressants or fendiline normalizes behavior in corticosterone stressed or nonstressed mice

behavior/neurological

abnormal depression-related behavior ( J:199833 )

• mice exhibit depression-like behavior

• however, treatment with antidepressants or fendiline normalizes behavior in corticosterone stressed or nonstressed mice

nervous system

abnormal neuron differentiation ( J:199833 )

• decreased neurogenesis, neuronal maturation and survival in the absence or presence of amitriptyline and fluoxetine

• however, corticosterone stressed or nonstressed mice treated with amitriptyline and fluoxetine exhibit increased in neurogenesis, neuronal maturation and survival

cellular

abnormal neuron differentiation ( J:199833 )

• decreased neurogenesis, neuronal maturation and survival in the absence or presence of amitriptyline and fluoxetine

• however, corticosterone stressed or nonstressed mice treated with amitriptyline and fluoxetine exhibit increased in neurogenesis, neuronal maturation and survival

Allelic Composition	Hprt1^{tm1(Nfkb1-EGFP)Cjo}/Hprt1⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(Nfkb1-EGFP)Cjo} mutation (0 available); any Hprt1 mutation (1274 available)

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

normal phenotype

no abnormal phenotype detected ( J:92020 )

Allelic Composition	Miox^tm1Ysk/Miox^tm1Ysk Hprt1^{tm1(Pck1-cre)Vhh}/Hprt1⁺
Genetic Background	B6.129-Miox^tm1Ysk Hprt1^{tm1(Pck1-cre)Vhh}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(Pck1-cre)Vhh} mutation (0 available); any Hprt1 mutation (1274 available)
Miox^tm1Ysk mutation (0 available); any Miox mutation (37 available)

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

homeostasis/metabolism

decreased susceptibility to injury ( J:266834 )

• mice exhibit ameliorated cisplatin-induced acute kidney injury with reduced weight loss and minimal elevation of serum creatinine or urea levels, and mild cytolysis of tubular cells and loss of brush border but no renal tubular cell apoptosis or induction of reactive oxygen species generation compared with wild-type mice

growth/size/body

decreased susceptibility to weight loss ( J:266834 )

• induced by cisplatin

Allelic Composition	Agtr1a^tm1.1Cof/Agtr1a^tm1.1Cof Hprt1^{tm1(Pck1-cre)Vhh}/Hprt1⁺
Genetic Background	involves: 129 * 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agtr1a^tm1.1Cof mutation (0 available); any Agtr1a mutation (40 available)
Hprt1^{tm1(Pck1-cre)Vhh} mutation (0 available); any Hprt1 mutation (1274 available)

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

cardiovascular system

decreased systemic arterial systolic blood pressure ( J:172240 )

• decreased during both the night and day

• responses to high salt diet and vasoconstrictors are similar to wild-type controls

renal/urinary system

abnormal renal water reabsorption ( J:172240 )

• absolute rates of proximal fluid reabsorption are reduced

• fractional reabsorption rates, corrected for single nephron glomerular filtration rate, are reduced

decreased renal glomerular filtration rate ( J:172240 )

• decrease in single nephron glomerular filtration rate in the proximal tubules

homeostasis/metabolism

abnormal renal water reabsorption ( J:172240 )

• absolute rates of proximal fluid reabsorption are reduced

• fractional reabsorption rates, corrected for single nephron glomerular filtration rate, are reduced

Allelic Composition	Hprt1^{tm2(CAG-TBX2,-EGFP)Akis}/Hprt1⁺ Tg(Myh6-cre)2182Mds/0
Genetic Background	involves: 129 * FVB/N * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm2(CAG-TBX2,-EGFP)Akis} mutation (0 available); any Hprt1 mutation (1274 available)
Tg(Myh6-cre)2182Mds mutation (3 available)

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

cardiovascular system

abnormal heart development ( J:181526 )

• mice exhibit ectopic sub-endocardial mesenchyme in the atria and to a lesser extent in the ventricles unlike in control mice

• mice exhibit abnormal cardiac jelly and cushion formation in chamber myocardium compared with control mice

Allelic Composition	Hprt1^{tm1(CAG-BRF1)Gu}/Hprt1⁺ Kras^tm4Tyj/Kras⁺ Trp53^tm2Tyj/Trp53⁺ Tg(Pdx1-cre)6Tuv/0
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * 129S7/SvEvBrd * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(CAG-BRF1)Gu} mutation (0 available); any Hprt1 mutation (1274 available)
Kras^tm4Tyj mutation (9 available); any Kras mutation (76 available)
Tg(Pdx1-cre)6Tuv mutation (3 available)
Trp53^tm2Tyj mutation (4 available); any Trp53 mutation (232 available)

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

mortality/aging

premature death ( J:285667 )

• as in mice lacking the BRF1 knock-in

neoplasm

increased pancreatic ductal adenocarcinoma incidence ( J:285667 )

• as in mice lacking the BRF1 knock-in

homeostasis/metabolism

abnormal translation ( J:285667 )

• tRNA levels are increased in the pancreas

endocrine/exocrine glands

increased pancreatic ductal adenocarcinoma incidence ( J:285667 )

• as in mice lacking the BRF1 knock-in

cellular

abnormal translation ( J:285667 )

• tRNA levels are increased in the pancreas

Allelic Composition	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺ Hprt1^{tm1(Pbsn*-cre/ERT2)Jir}/Hprt1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1Sor mutation (8 available); any Gt(ROSA)26Sor mutation (942 available)
Hprt1^{tm1(Pbsn*-cre/ERT2)Jir} mutation (0 available); any Hprt1 mutation (1274 available)

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

normal phenotype

no abnormal phenotype detected ( J:144541 )

Allelic Composition	Brf1^tm1Arte/Brf1^tm1Arte Hprt1^{tm1(CAG-BRF1)Gu}/Hprt1⁺ Tg(Cyp1a1-cre)1Dwi/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brf1^tm1Arte mutation (0 available); any Brf1 mutation (23 available)
Hprt1^{tm1(CAG-BRF1)Gu} mutation (0 available); any Hprt1 mutation (1274 available)
Tg(Cyp1a1-cre)1Dwi mutation (1 available)

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

liver/biliary system

liver/biliary system phenotype ( J:285667 )

N	• mice exhibit normal circulating liver enzyme, liver size, and liver cell proliferation

Allelic Composition	Hprt1^{tm1(Pck1-cre)Vhh}/Hprt1⁺ Tg(CAG-lacZ,-Miox)#Ysk/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(Pck1-cre)Vhh} mutation (0 available); any Hprt1 mutation (1274 available)
Tg(CAG-lacZ,-Miox)#Ysk mutation (0 available)

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

renal/urinary system

increased renal tubule apoptosis ( J:266834 )

• induced by cisplatin

homeostasis/metabolism

increased circulating creatinine level ( J:266834 )

• induced by cisplatin

increased blood urea nitrogen level ( J:266834 )

• induced by cisplatin

increased susceptibility to injury ( J:266834 )

• mice exhibit worsened cisplatin-induced acute kidney injury with increased weight loss, serum creatinine and urea levels, and fulminant apoptosis of renal tubular cells, and accentuated cytolysis of tubular cells with loss of brush border and reactive oxygen species generation compared with wild-type mice

cellular

increased renal tubule apoptosis ( J:266834 )

• induced by cisplatin

oxidative stress ( J:266834 )

• induced by cisplatin

Allelic Composition	Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺ Ptpn11^tm1Ckq/Ptpn11⁺
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(CAG-cre)Mnn} mutation (1 available); any Hprt1 mutation (1274 available)
Ptpn11^tm1Ckq mutation (0 available); any Ptpn11 mutation (43 available)

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

Embryonic lethality in Ptpn11^tm1Ckq/Ptpn11⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺ mice

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:177285 )

• mice die around E11.5

embryo

embryonic growth retardation ( J:177285 )

• at E9.5

cardiovascular system

abnormal heart tube morphology ( J:177285 )

• enlarged

craniofacial

abnormal craniofacial development ( J:177285 )

growth/size/body

embryonic growth retardation ( J:177285 )

• at E9.5

Allelic Composition	Ext1^tm1Vcs/Ext1⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1^tm1Vcs mutation (1 available); any Ext1 mutation (63 available)
Hprt1^{tm1(CAG-cre)Mnn} mutation (1 available); any Hprt1 mutation (1274 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:157599 )

• no viable embryos are recovered at E11.5

Allelic Composition	Gt(ROSA)26Sor^{tm1(sb11)Njen}/Gt(ROSA)26Sor⁺ Hprt1^{tm1(sb-Onco-Array)Peli}/Hprt1⁺
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm1(sb11)Njen} mutation (1 available); any Gt(ROSA)26Sor mutation (942 available)
Hprt1^{tm1(sb-Onco-Array)Peli} mutation (0 available); any Hprt1 mutation (1274 available)

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

mortality/aging

premature death ( J:166283 )

• all mice that survive past weaning are sick by 42 days of age

perinatal lethality, incomplete penetrance ( J:166283 )

• fewer than expected mice are found at E18.5 and at birth

postnatal lethality, incomplete penetrance ( J:166283 )

• most survivors die before weaning

neoplasm

increased tumor incidence ( J:166283 )

• live born mice develop a variety of benign and malignant tumors

• mice develop tumors in multiple organs

increased skin squamous cell carcinoma incidence ( J:166283 )

increased rhabdomyosarcoma incidence ( J:166283 )

increased lung adenoma incidence ( J:166283 )

increased hemangioma incidence ( J:166283 )

increased lymphoma incidence ( J:166283 )

increased medulloblastoma incidence ( J:166283 )

increased lung adenocarcinoma incidence ( J:166283 )

increased hemangiosarcoma incidence ( J:166283 )

growth/size/body

decreased birth body size ( J:166283 )

• live born mice are smaller than their control littermates

postnatal growth retardation ( J:166283 )

integument

increased skin squamous cell carcinoma incidence ( J:166283 )

respiratory system

increased lung adenoma incidence ( J:166283 )

increased lung adenocarcinoma incidence ( J:166283 )

nervous system

increased medulloblastoma incidence ( J:166283 )

muscle

increased rhabdomyosarcoma incidence ( J:166283 )

Allelic Composition	Hprt1^{tm2(Pgk1-Pac/TK)Brd}/Hprt1⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6 * CBA

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)
Hprt1^{tm2(Pgk1-Pac/TK)Brd} mutation (1 available); any Hprt1 mutation (1274 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:130481 )

• fewer than expected ganciclovir-treated mice are present at E12.5 due to death associated with cardiac defects

cardiovascular system

abnormal aortic arch morphology ( J:130481 )

retroesophageal right subclavian artery ( J:130481 )

• in mice treated with ganciclovir

interrupted aortic arch ( J:130481 )

• 73% of ganciclovir-treated mice with truncus arteriosis exhibit type 4A with a small ascending aortic component, a large ductus arteriosus, and underdevelopment of the arch that is associated with interrupted aortic arch

interrupted aortic arch, type b ( J:130481 )

• 10% of ganciclovir-treated mice with interrupted aortic arch exhibit type B interruptions (interruptions between the take off of the left common carotid artery and the left subclavian artery)

interrupted aortic arch, type c ( J:130481 )

• 90% of ganciclovir-treated mice with interrupted aortic arch exhibit type C interruptions between the brachiocephalic artery and the left common carotid artery

right aortic arch ( J:130481 )

• in mice treated with ganciclovir

abnormal cardiovascular development ( J:130481 )

• 52% of mice treated with ganciclovir at E7.5 exhibit cardiac defects consisting of ventral septum defects and malalignment defects

• mice treated with two injections of ganciclovir at E7.5 and E8.5 exhibit more severe cardiac phenotype than ones treated with a single dose at E7.5 including 8% truncus arteriosis

• mice treated with three injections of ganciclovir at E7.5, E8.5 and E9.5 exhibit more severe cardiac defects than double injected mice with 75% truncus arteriosis, 15% double outlet right ventricle and 10% dextropositioned aorta

abnormal cardiac outflow tract development ( J:130481 )

• at E9.5, ganciclovir-treated mice the outflow tract is underdeveloped, assumes a more dorsal position compared to in wild-type mice, and exhibits elongation and looping defects

• at E10.5, outflow tract cushion mesenchyme cellularity is reduced in mice treated with ganciclovir

• the outflow tract fails to expand as in wild-type mice with 7 of 12 mice exhibiting hypoblastic aortic side and 5 of 12 mice with hypoplastic pulmonary side

persistent truncus arteriosus ( J:130481 )

• at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without truncus arteriosus

• 73% of ganciclovir-treated mice with truncus arteriosis exhibit type 4A (small ascending aortic component, a large ductus arteriosus, and underdevelopment of the arch that is associated with interrupted aortic arch) while 10% exhibit type A2 (absent ductus arteriosis and a large ascending aorta and aortic arch components), and 17% exhibit type A1 (partially formed aorticopulmonary septum separating the common trunk into aortic and pulmonary components distally)

• 6 of 7 ganciclovir-treated mice exhibit the absence of the ductus arteriosus

abnormal heart morphology ( J:130481 )

double outlet right ventricle ( J:130481 )

• at E13.5, some ganciclovir-treated mice exhibit ventricular septum defects with double outlet right ventricle that sis associated with a lack of semilunar valve to the artrioventricular valve fibrous continuity

• 29% of ganciclovir-treated mice with double outlet right ventricles exhibit stenosis or hypoplasia of the pulmonary outflow tract and pulmonary valve

overriding aortic valve ( J:130481 )

• at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without dextroposition of the aorta, truncus arteriosus and double outlet right ventricle

• 29% of ganciclovir-treated mice exhibit side-by-side great arteries while 71% exhibit an aorta that is posterior and to the right of the pulmonary artery

transposition of great arteries ( J:130481 )

• in ganciclovir-treated mice

ventricular septal defect ( J:130481 )

• at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without dextroposition of the aorta, truncus arteriosus and double outlet right ventricle that is either uncommitted or subaortic

enlarged heart ( J:130481 )

• in ganciclovir-treated mice at E10.5

abnormal heart valve morphology ( J:130481 )

• at E12.5-15.5, 3 of 12 ganciclovir-treated mice exhibit a hypoplastic fourth cusp on the truncal valve

abnormal mitral valve morphology ( J:130481 )

• at E14.5, ganciclovir-treated mice exhibit a fibrous continuity between the aortic valve and the mitral valve that connects to the left ventricle

abnormal aortic valve morphology ( J:130481 )

• at E14.5, ganciclovir-treated mice exhibit a fibrous continuity between the aortic valve and the mitral valve that connects to the left ventricle

abnormal heart right ventricle morphology ( J:130481 )

• at E9.5, ganciclovir-treated mice the right ventricle is underdeveloped and more dorsally located compared to in wild-type mice

heart right ventricle outflow tract stenosis ( J:130481 )

• 29% of ganciclovir-treated mice with double outlet right ventricles exhibit stenosis or hypoplasia of the pulmonary outflow tract and pulmonary valve

pulmonary valve stenosis ( J:130481 )

• 29% of ganciclovir-treated mice with double outlet right ventricles exhibit stenosis or hypoplasia of the pulmonary outflow tract and pulmonary valve

• 3 ganciclovir-treated mice with pulmonary stenosis exhibit an aortic valve positioned posterior and to the right of the pulmonary valve reminiscent of cases of tetralogy of Fallot

pericardial effusion ( J:130481 )

• in ganciclovir-treated mice at E10.5

congestive heart failure ( J:130481 )

• ganciclovir-treated mice that die by E12.5 exhibit signs of congestive heart failure such as generalized edema, enlarged heart, pericardial effusion and small gestational size

embryo

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

• at E10.5, mice treated with ganciclovir exhibit reduced pharyngeal arch mesenchyme compared to wild-type mice

decreased embryo size ( J:130481 )

• at E10.5, ganciclovir-treated mice are smaller than wild-type mice

abnormal neural crest cell morphology ( J:130481 )

• when mice are treated with a single injection of ganciclovir at E7.5 neural crest cells of the cephalic portion of the neural tube and the first pharyngeal arch, but not cardiac neural crest cells, are ablated

• however, when mice are treated with a single injection of ganciclovir at E7.0 neural crest cells develop normally

• when mice are treated with a single injection of ganciclovir at E8.5 neural crest cells at all axial levels are ablated whereas a double injection of ganciclovir at E8.5 results in ablation of neural crest cells along the full length of the neural tube and those that have migrated to the first three pharyngeal arches

• female mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit less extensive neural crest cells ablation than male mice

nervous system

abnormal neural crest cell morphology ( J:130481 )

• however, when mice are treated with a single injection of ganciclovir at E7.0 neural crest cells develop normally

• female mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit less extensive neural crest cells ablation than male mice

craniofacial

abnormal craniofacial morphology ( J:130481 )

• at E9.5, mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit craniofacial defects

• at E9.5, female mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit less severe craniofacial defects than males

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

• at E10.5, mice treated with ganciclovir exhibit reduced pharyngeal arch mesenchyme compared to wild-type mice

homeostasis/metabolism

pericardial effusion ( J:130481 )

• in ganciclovir-treated mice at E10.5

edema ( J:130481 )

• in ganciclovir-treated mice at E10.5

growth/size/body

enlarged heart ( J:130481 )

• in ganciclovir-treated mice at E10.5

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

• at E10.5, mice treated with ganciclovir exhibit reduced pharyngeal arch mesenchyme compared to wild-type mice

decreased embryo size ( J:130481 )

• at E10.5, ganciclovir-treated mice are smaller than wild-type mice

Allelic Composition	Porcn^tm1.1Vdv/Porcn⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺
Genetic Background	involves: 129S/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(CAG-cre)Mnn} mutation (1 available); any Hprt1 mutation (1274 available)
Porcn^tm1.1Vdv mutation (1 available); any Porcn mutation (18 available)

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

Open neural tube and abdominal wall closure defect in Porcn^tm1.1Vdv/Porcn⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺ mice

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:186934 )

• most die before E12.5

prenatal lethality, complete penetrance ( J:186934 )

embryo

caudal body truncation ( J:186934 )

• axial/tail truncation in most embryos

embryonic growth retardation ( J:186934 )

• become progressively smaller compared to wild-type controls

open neural tube ( J:186934 )

• in most embryos

growth/size/body

embryonic growth retardation ( J:186934 )

• become progressively smaller compared to wild-type controls

abnormal ventral body wall morphology ( J:186934 )

• defects in ventral body wall closure in most embryos

nervous system

open neural tube ( J:186934 )

• in most embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:186934

Allelic Composition	Gt(ROSA)26Sor^tm1Fia/Gt(ROSA)26Sor⁺ Hprt1^{tm1(CMV-cre)Brd}/Hprt1⁺ Nf1^tm1Fcr/Nf1^tm1Fcr
Genetic Background	involves: 129S/SvEv * 129S/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1Fia mutation (0 available); any Gt(ROSA)26Sor mutation (942 available)
Hprt1^{tm1(CMV-cre)Brd} mutation (0 available); any Hprt1 mutation (1274 available)
Nf1^tm1Fcr mutation (3 available); any Nf1 mutation (157 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:114455 )

• some mice (5/208) survive to birth while all Nf1-null homozygotes expressing either Gt(ROSA)26Sor^tm1Fia or Hprt1^{tm1(CMV-cre)Brd} die prior to birth

nervous system

abnormal sympathetic ganglion morphology ( J:114455 )

• massively enlarged

abnormal somatic sensory system morphology ( J:114455 )

• peripheral ganglia are massively enlarged in newborns

abnormal dorsal root ganglion morphology ( J:114455 )

• enormous paraspinal masses arise from the dorsal root ganglia

endocrine/exocrine glands

adrenal medulla hyperplasia ( J:114455 )

• medulla is overgrown compared with wild-type, with cortical effacement and tumor-like medullary protrusion

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:114455 )

• elevate Ras levels return to wild-type levels by E12.5 with expression of Gt(ROSA)26Sor^tm1Fia

Allelic Composition	Gt(ROSA)26Sor^tm1Fia/Gt(ROSA)26Sor^tm1Fia Hprt1^{tm1(CMV-cre)Brd}/Hprt1⁺ Nf1^tm1Fcr/Nf1^tm1Fcr
Genetic Background	involves: 129S/SvEv * 129S/SvEvBrd

Find Mice

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

nervous system

abnormal somatic sensory system morphology ( J:114455 )

• peripheral ganglia are massively enlarged in newborns

Allelic Composition	Hprt1^{tm1(H1-RNAi:Tmsb4x)Prri}/Hprt1⁺ Tg(Tek-cre)1Ywa/0
Genetic Background	involves: C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(H1-RNAi:Tmsb4x)Prri} mutation (0 available); any Hprt1 mutation (1274 available)
Tg(Tek-cre)1Ywa mutation (6 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:195902 )

• fewer than expected mice are recovered between E10.5 and P1

embryonic lethality during organogenesis, incomplete penetrance ( J:195902 )

• fewer than expected mice are recovered between E10.5 and P1

cardiovascular system

abnormal blood vessel morphology ( J:195902 )

• blood vessel walls exhibit reduced recruitment of mural cells compared to in control mice

internal hemorrhage ( J:195902 )

• in the coelomic cavity in some mice at E10.5

hemopericardium ( J:195902 )

• in some mice at E10.5

intracranial hemorrhage ( J:195902 )

• in some mice at E10.5

homeostasis/metabolism

hemopericardium ( J:195902 )

• in some mice at E10.5

nervous system

intracranial hemorrhage ( J:195902 )

• in some mice at E10.5

Allelic Composition	Hprt1^{tm1(tetO-Runx1,-EGFP)Enk}/Hprt1⁺ Sox10^tm2(rtTA)Weg/Sox10⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(tetO-Runx1,-EGFP)Enk} mutation (0 available); any Hprt1 mutation (1274 available)
Sox10^tm2(rtTA)Weg mutation (0 available); any Sox10 mutation (33 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:165939 )

• doxycycline-treated mice die 2 to 3 days after birth

nervous system

small dorsal root ganglion ( J:165939 )

• in doxycycline-treated mice

digestive/alimentary system

megacolon ( J:165939 )

• in doxycycline-treated mice

behavior/neurological

hyperresponsive to tactile stimuli ( J:165939 )

• in doxycycline-treated mice after a chronic constriction injury

growth/size/body

decreased birth body size ( J:165939 )

• in doxycycline-treated mice

pigmentation

abnormal skin pigmentation ( J:165939 )

• at birth in doxycycline-treated mice

integument

abnormal skin pigmentation ( J:165939 )

• at birth in doxycycline-treated mice

Allelic Composition	Hprt1^{tm1(Camk2a-APPSweLon,-MAPTP301LR406W)Geno}/Hprt1⁺ Tg(PSEN1)5Dbo/0
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(Camk2a-APP*Swe*Lon,-MAPT*P301L*R406W)Geno} mutation (0 available); any Hprt1 mutation (1274 available)
Tg(PSEN1)5Dbo mutation (1 available)

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

behavior/neurological

abnormal learning/memory/conditioning ( J:180977 )

• at 5 months, mice exhibit impaired social recognition memory compared with control mice

• at 12 months, mice lack social recognition memory unlike control mice

impaired short-term object recognition memory ( J:180977 )

• impaired at 8 months

• amnesia at 12 months

abnormal spatial reference memory ( J:180977 )

• at 12 months, mice exhibit impaired object recognition following spatial displacement compared with control mice

abnormal spatial working memory ( J:180977 )

• impaired at 12 months

abnormal motor coordination/balance ( J:180977 )

• mice exhibit higher swim speeds compared with control mice

hyperactivity ( J:180977 )

• at 12 months, mice fail to exhibit a decline in activity during the day phase unlike control mice

fragmentation of sleep/wake states ( J:180977 )

• at 5 months mice exhibit increased wake time compared with control mice

• at 5 and 12 months, mice exhibit a decrease in rapid eye movement (REM) sleep compared with control mice

• at 5 months, mice exhibit a reduction in nonREM sleep compared with control mice

• at 12 months mice exhibit longer latency to sleep onset compared with control mice

nervous system

nervous system phenotype ( J:180977 )

N	• mice do not develop fibrillary plaques or tangles

abnormal brain wave pattern ( J:180977 )

• mice exhibit a slowing of electroencephalogram compared with control mice

abnormal long-term potentiation ( J:180977 )

• mice exhibit faster decay of long term potentiation compared with control mice

• however, post-tetanic potentiation is normal

decreased paired-pulse facilitation ( J:180977 )

homeostasis/metabolism

abnormal glucose homeostasis ( J:180977 )

• mice exhibit early and progressive brain glucose metabolism compared with control mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:180977

Allelic Composition	Hprt1^tm3Brd/Hprt1⁺ Myo7a^4626SB/Myo7a^4626SB
Genetic Background	involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^tm3Brd mutation (0 available); any Hprt1 mutation (1274 available)
Myo7a^4626SB mutation (3 available); any Myo7a mutation (118 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:132633 )

N	• mice do not exhibit circling or head bobbing and have normal hair cells

Allelic Composition	Hprt1^tm2Brd/Hprt1⁺ Myo7a^4626SB/Myo7a^4626SB
Genetic Background	involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^tm2Brd mutation (1 available); any Hprt1 mutation (1274 available)
Myo7a^4626SB mutation (3 available); any Myo7a mutation (118 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:132633 )

N	• mice do not exhibit circling or head bobbing and have normal hair cells

Allelic Composition	Hprt1^{tm2(UAS-Bmp4)Bhr}/Hprt1⁺ Tg(Wnt1-GAL4)1Rth/0
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm2(UAS-Bmp4)Bhr} mutation (0 available); any Hprt1 mutation (1274 available)
Tg(Wnt1-GAL4)1Rth mutation (0 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:91296 )

• many transgenic embryos die between E11.5 and E12.5

cardiovascular system

abnormal blood vessel morphology ( J:91296 )

• at E11.5 embryos display ectopic blood vessel formation

hemorrhage ( J:91296 )

• at E11.5 embryos display midbrain hemorrhage

growth/size/body

embryonic growth retardation ( J:91296 )

• by E11.5 embryos are growth retarded

vision/eye

abnormal eye morphology ( J:91296 )

• at E11.5 eye abnormalities are seen

nervous system

exencephaly ( J:91296 )

• at E11.5 embryos display midbrain exencephaly

embryo

embryonic growth retardation ( J:91296 )

• by E11.5 embryos are growth retarded

Allelic Composition	Hprt1^{tm1(UAS-Bmp4)Bhr}/Hprt1⁺ Tg(Wnt1-GAL4)1Rth/0
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(UAS-Bmp4)Bhr} mutation (0 available); any Hprt1 mutation (1274 available)
Tg(Wnt1-GAL4)1Rth mutation (0 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:91296 )

• many transgenic embryos die between E11.5 and E12.5

cardiovascular system

hemorrhage ( J:91296 )

• at E11.5 embryos display midbrain hemorrhage

growth/size/body

embryonic growth retardation ( J:91296 )

• by E11.5 embryos are growth retarded

nervous system

exencephaly ( J:91296 )

• at E11.5 embryos display midbrain exencephaly

embryo

embryonic growth retardation ( J:91296 )

• by E11.5 embryos are growth retarded

Allelic Composition	Gdpd2^tm1.1Soc/Gdpd2⁺ Hprt1^{tm1(CMV-GFP)Nat}/Hprt1⁺
Genetic Background	involves: 129/Sv * 129P2 /SvPas * 129S * BALB/cJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdpd2^tm1.1Soc mutation (0 available); any Gdpd2 mutation (8 available)
Hprt1^{tm1(CMV-GFP)Nat} mutation (1 available); any Hprt1 mutation (1274 available)

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

nervous system

increased oligodendrocyte progenitor number ( J:291492 )

• increased proportion of cells containing KO allele among Olig2+ oligodendrocyte precursor cells (OPCs) in E14.5 embryos

• increased proportion of cells containing KO allele among Ki67+ oligodendrocyte precursor cells (OPCs) at age P6

increased oligodendrocyte number ( J:291492 )

• increased proportion of cells containing KO allele among Olig2+ CC1+ differentiated oligodendrocytes at age P14

• increased expression of myelin basic protein in KO allele expressing oligodendrocytes at age P14

• normal proportion of cells containing KO allele among Olig2+ CC1+ differentiated oligodendrocytes and normal myelin basic protein expression at age P30

cellular

increased oligodendrocyte progenitor number ( J:291492 )

• increased proportion of cells containing KO allele among Olig2+ oligodendrocyte precursor cells (OPCs) in E14.5 embryos

• increased proportion of cells containing KO allele among Ki67+ oligodendrocyte precursor cells (OPCs) at age P6

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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