Phenotypes associated with this allele

• Allele Symbol: Gt(ROSA)26Sor^tm1Sho
• Allele Name: targeted mutation 1, Stuart Orkin
• Allele ID: MGI:1861931
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gt(ROSA)26Sor^tm1Sho/0 Itga5^tm2Hyn/Itga5^tm1Hyn Itgav^tm1Hyn/Itgav^tm2Hyn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:4818940
cn2	Gt(ROSA)26Sor^tm1Sho/0 Itga5^tm2Hyn/Itga5^tm1Hyn Itgav^tm2Hyn/Itgav^+ Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:4818939
cn3	Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+ Wt1^tm1(EGFP/cre)Wtp/Wt1^+ Zfpm2^tm1Sho/Zfpm2^tm1Sho	involves: 129S1/Sv * 129S4/SvJaeSor	MGI:3851406
cn4	Atoh7^tm1Gla/Atoh7^tm1Gla Tg(Crx-Atoh7,-cre)251Gla/0 Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL	MGI:5433335
cn5	Atoh7^tm1Gla/Atoh7^tm1Gla Tg(Crx-Atoh7,-cre)60Gla/0 Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL	MGI:5433338
cn6	Nfatc1^tm1Glm/Nfatc1^tm1Glm Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * CBA	MGI:5432553
cn7	Nfatc1^tm1Glm/Nfatc1^tm1Glm Tg(Tek-cre)1Ywa/0 Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * SJL	MGI:5432552
cn8	Tsc1^tm1Djk/Tsc1^tm1Djk Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+	involves: 129S4/SvJae * 129S4/SvJaeSor	MGI:5698924

Genotype
MGI:4818940

cn1

• Allelic Composition: Gt(ROSA)26Sor^tm1Sho/0; Itga5^tm2Hyn/Itga5^tm1Hyn; Itgav^tm1Hyn/Itgav^tm2Hyn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:161850 )

• die at E14.5 of severe dorsal edema and sometimes hemorrhage

cardiovascular system

retroesophageal right subclavian artery ( J:161850 )

vascular ring ( J:161850 )

• aorta vascular ring

abnormal ascending aorta morphology ( J:161850 )

• absent ascending aorta

patent ductus arteriosus ( J:161850 )

• in one of two surviving mice

ventricular septal defect ( J:161850 )

• ventricular septation defects

cellular

patent ductus arteriosus ( J:161850 )

• in one of two surviving mice

Genotype
MGI:4818939

cn2

• Allelic Composition: Gt(ROSA)26Sor^tm1Sho/0; Itga5^tm2Hyn/Itga5^tm1Hyn; Itgav^tm2Hyn/Itgav⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:161850 )

• at P21 fewer mice are alive than wild type

cardiovascular system

patent ductus arteriosus ( J:161850 )

• in several of the mice

ventricular septal defect ( J:161850 )

• ventricular septation defects

cellular

patent ductus arteriosus ( J:161850 )

• in several of the mice

Genotype
MGI:3851406

cn3

• Allelic Composition: Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺; Wt1^{tm1(EGFP/cre)Wtp}/Wt1⁺; Zfpm2^tm1Sho/Zfpm2^tm1Sho
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor

cardiovascular system

cardiovascular system phenotype ( J:150452 )

N • mice show normal numbers of epicardium-derived cells (EPDCs) and epicardial epithelial-mesenchymal transition (EMT) occurs normally

Genotype
MGI:5433335

cn4

• Allelic Composition: Atoh7^tm1Gla/Atoh7^tm1Gla; Tg(Crx-Atoh7,-cre)251Gla/0; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

vision/eye

abnormal optic nerve morphology ( J:186563 )

• animals much thinner optic nerves relative to controls

abnormal optic nerve innervation ( J:186563 )

• in some animals, severe pathfinding defects are observed as the optic nerve exits the retina, forming a knot-like structure

abnormal retina ganglion layer morphology ( J:186563 )

• cell death is increased relative to Atoh7-null homozygotes with most dying cells observed in the ganglion cell layer (GCL)

abnormal retina nerve fiber layer morphology ( J:186563 )

• the transgenic Crx-Atoh7 (Math5) construct shows variable rescue of retinal axons and prevention of fasciculation defects in double mutants compared to Atoh7-null homozygotes

• rescue is less pronounced with successive generations

nervous system

abnormal optic nerve morphology ( J:186563 )

• animals much thinner optic nerves relative to controls

abnormal optic nerve innervation ( J:186563 )

• in some animals, severe pathfinding defects are observed as the optic nerve exits the retina, forming a knot-like structure

Genotype
MGI:5433338

cn5

• Allelic Composition: Atoh7^tm1Gla/Atoh7^tm1Gla; Tg(Crx-Atoh7,-cre)60Gla/0; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

vision/eye

abnormal optic nerve innervation ( J:186563 )

• knots of retinal ganglion cell axons are observed, consistent with the small degree of rescue

abnormal retina nerve fiber layer morphology ( J:186563 )

• the BAC Crx-Atoh7 (Crx-Math5) construct shows some rescue of retinal axons and prevention of fasciculation defects in double mutants compared to Atoh7 homozygotes; level of rescue is lower than that seen in Atoh7-null homozygotes crossed to the conventional transgenic Atoh7 mice (Tg(Crx-Atoh7,-cre)251Gla)

• rescue is less pronounced with successive generations

nervous system

abnormal optic nerve innervation ( J:186563 )

• knots of retinal ganglion cell axons are observed, consistent with the small degree of rescue

Genotype
MGI:5432553

cn6

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm1Glm; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * CBA

cardiovascular system

abnormal cardiac outflow tract development ( J:185683 )

• thinning of neural crest-derived mesenchyme in the distal outflow tract (dOFT) of E12.5 embryos, affecting the formation of the base of the aortic valve

Genotype
MGI:5432552

cn7

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm1Glm; Tg(Tek-cre)1Ywa/0; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * SJL

cardiovascular system

abnormal cardiac outflow tract development ( J:185683 )

• boundary of the proximal outflow tract (pOFT) and distal outflow tract (dOFT) at the outflow tract bend is distrupted, with an extension of endocardium-derived mesenchyme into the dOFT cushion in mutants

Genotype
MGI:5698924

cn8

• Allelic Composition: Tsc1^tm1Djk/Tsc1^tm1Djk; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor

Brains of Tsc1^tm1Djk/Tsc1^tm1Djk Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺ mice injected with an adenovirus expressing cre recombinase show ventricular region abnormalities

mortality/aging

premature death ( J:221022 )

• mice injected with a high dose of adenovirus expressing cre (AAVrh8-CBA-Cre) into each cerebral lateral ventricle on the day of birth exhibit a median survival of 38 days

• mice injected with a low dose of adenovirus expressing cre (AAVrh8-CBA-Cre) into each cerebral lateral ventricle on the day of birth exhibit a median survival of 180 days

• mice injected with a high dose of a different adenovirus expressing cre (AAV1-CBA-Cre) into each cerebral lateral ventricle on the day of birth exhibit a median survival of 66.5 days

growth/size/body

cachexia ( J:221022 )

• mice injected with the AAV1-CBA-Cre adenovirus exhibit signs of distress at 1-5 months of age, including hunched back, dehydration, and weight loss

nervous system

abnormal brain morphology ( J:221022 )

• brains exhibit a smoother surface in mice injected with the AAV1-CBA-Cre adenovirus

hydrocephaly ( J:221022 )

• severe hydrocephalus in 2 of 10 and mild hydrocephalus in 6 of 10 mice injected with AAV1-CBA-Cre

increased brain size ( J:221022 )

• brains appear enlarged and swollen in 30 day old mice injected with the high dose of adenovirus (AAVrh8-CBA-Cre or AAV1-CBA-Cre) expressing cre

abnormal brain ventricle morphology ( J:221022 )

• ventricular volume at P30 is about 4 times larger in mice injected with the AAV1-CBA-Cre adenovirus, while the brain tissue volume is about 6% larger

• 3 of 4 AAV1-CBA-Cre injected mice show nodules and thickening of the ventricular lining

enlarged lateral ventricles ( J:221022 )

• massively enlarged lateral ventricles in mice injected with AAV1-CBA-Cre, resulting from a constriction between the 3rd and lateral ventricles

abnormal postnatal subventricular zone morphology ( J:221022 )

• mice injected with AAV1-CBA-Cre develop hypertrophy of the subependymal layer, with expansion of the normal one cell thick layer into a convoluted layer with projections and isolated nodules

abnormal neuron morphology ( J:221022 )

• almost 2-fold increase in neuronal diameter near the periventricular area of 30 day old mice injected with the high dose of adenovirus expressing cre (AAVrh8-CBA-Cre or AAV1-CBA-Cre)

• some phospho-S6-positive Purkinje cells in the cerebellum and neurons in the caudate are enlarged in mice injected with AAV1-CBA-Cre

behavior/neurological

hunched posture ( J:221022 )

• mice injected with the high dose of adenovirus expressing cre (AAVrh8-CBA-Cre or AAV1-CBA-Cre) develop a hunched back

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:221022