Phenotypes associated with this allele

• Allele Symbol: Gt(ROSA)26Sor^{tm1(MAML1)Wsp}
• Allele Name: targeted mutation 1, Warren S Pear
• Allele ID: MGI:3665249
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gt(ROSA)26Sor^tm1(MAML1)Wsp/Gt(ROSA)26Sor^+ Tg(Cd4-cre)1Cwi/0	B6.Cg-Tg(Cd4-cre)1Cwi Gt(ROSA)26Sor^tm1(MAML1)Wsp	MGI:3691125
cn2	Gt(ROSA)26Sor^tm1(MAML1)Wsp/Gt(ROSA)26Sor^+ Tg(KRT14-rtTA)F42Efu/0 Tg(tetO-cre)1Jaw/0	involves: 129 * C57BL/6 * FVB	MGI:5512988
cn3	Gt(ROSA)26Sor^tm1(MAML1)Wsp/Gt(ROSA)26Sor^+ Tg(Tagln-cre)1Jjl/0	involves: CD-1 * FVB/N	MGI:3691131
cn4	Gt(ROSA)26Sor^tm1(MAML1)Wsp/Gt(ROSA)26Sor^+ Pax3^tm1(cre)Joe/Pax3^+	Not Specified	MGI:3807513

Genotype
MGI:3691125

cn1

• Allelic Composition: Gt(ROSA)26Sor^{tm1(MAML1)Wsp}/Gt(ROSA)26Sor⁺; Tg(Cd4-cre)1Cwi/0
• Genetic Background: B6.Cg-Tg(Cd4-cre)1Cwi Gt(ROSA)26Sor^{tm1(MAML1)Wsp}

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

immune system

abnormal immunoglobulin level ( J:113262 )

• serum levels of T. muris-specific IgG1 are decreased compared to controls, IgG2a levels are increased, and total IgE is lower in infected mutants

abnormal T-helper 1 physiology ( J:113262 )

• under neutral and Th2 conditions, interferon gamma (Ifng)-producing cells increase in culture compared to controls; under Th1 conditions, there is no change in percentage of Ifng-producing cells

abnormal T-helper 2 physiology ( J:113262 )

• Th2 cell differentiation is impaired in culture compared to control CD4 trangenic mice

• under Th2 cell conditions, percentage of T cells expressing Il-4 is lower than in control cultures

• Th2 cytokine production is lower in mice after inoculation with T. muris (helminth)

decreased susceptibility to parasitic infection ( J:113262 )

• mice are resistant to Leishmania major infection; parasitic replication is controlled and lesions are resolved compared to BALB/c controls

• lymph node cells produce abundant amounts of Ifng

increased susceptibility to parasitic infection ( J:113262 )

• mutants are unable to fight infection by T. muris, a helminthic pathogen

• Th2-dependent goblet cell and mucin responses are absent at day 21 after infection

• mice have a higher worm burden than control CD4 transgenic mice; at 32 days after inoculation, infection is still present

hematopoietic system

abnormal immunoglobulin level ( J:113262 )

• serum levels of T. muris-specific IgG1 are decreased compared to controls, IgG2a levels are increased, and total IgE is lower in infected mutants

abnormal T-helper 1 physiology ( J:113262 )

• under neutral and Th2 conditions, interferon gamma (Ifng)-producing cells increase in culture compared to controls; under Th1 conditions, there is no change in percentage of Ifng-producing cells

abnormal T-helper 2 physiology ( J:113262 )

• Th2 cell differentiation is impaired in culture compared to control CD4 trangenic mice

• under Th2 cell conditions, percentage of T cells expressing Il-4 is lower than in control cultures

• Th2 cytokine production is lower in mice after inoculation with T. muris (helminth)

Genotype
MGI:5512988

cn2

• Allelic Composition: Gt(ROSA)26Sor^{tm1(MAML1)Wsp}/Gt(ROSA)26Sor⁺; Tg(KRT14-rtTA)F42Efu/0; Tg(tetO-cre)1Jaw/0
• Genetic Background: involves: 129 * C57BL/6 * FVB

vision/eye

conjunctivitis ( J:194073 )

• CD45+ leukocyte infiltration is seen in the sub-conjunctival stroma 3-4 days after eyelid opening, at P16, of pups treated with doxycycline

abnormal eye morphology ( J:194073 )

• epithelial cells of the ocular surface of pups treated with doxycycline (via nursing moms) are hyperplastic and aberrantly desquamated from the conjunctiva

cornea vascularization ( J:194073 )

• pulse doxycycline induction from P0 to P16 results in mutants with severe ulceration and neovascularization in the cornea, even after 180 days post-doxycycline induction

abnormal conjunctival epithelium morphology ( J:194073 )

• the aberrantly desquamated cells within the conjunctival sac are composed of conjunctival epithelial cells and basal cells of stratified epithelia but not corneal epithelial cells, indicating aberrant conjunctival, but not corneal, epithelial cell desquamation

• conjunctival epithelia from pups treated with doxycycline (via nursing moms) exhibit an increase in cell proliferation

abnormal conjunctiva goblet cell differentiation ( J:194073 )

• pups treated with doxycycline (via nursing moms) do not show signs of goblet cell differentiation from the conjunctival epithelium at P9 or P16 unlike controls

decreased conjunctiva goblet cell number ( J:194073 )

• adult mice administered doxycycline at P90 exhibit loss of goblet cells from the conjunctiva and cellular debris in the conjunctival sac

abnormal conjunctival sac morphology ( J:194073 )

• pups from nursing moms administered doxycycline do not exhibit clear conjunctival sacs at P9 as in wild-type pups and instead have a mass of cell debris that is abnormally present in the conjunctival sac, indicating early ocular surface morphogenesis alterations

• adult mice administered doxycycline at P90 exhibit cellular debris in the conjunctival sac

abnormal cornea epithelium morphology ( J:194073 )

• pups treated with doxycycline exhibit epidermal metaplasia of corneal epithelium at P16

cornea ulcer ( J:194073 )

• pulse doxycycline induction from P0 to P16 results in mutants with severe ulceration and neovascularization in the cornea, even after 180 days post-doxycycline induction

cardiovascular system

cornea vascularization ( J:194073 )

• pulse doxycycline induction from P0 to P16 results in mutants with severe ulceration and neovascularization in the cornea, even after 180 days post-doxycycline induction

immune system

conjunctivitis ( J:194073 )

• CD45+ leukocyte infiltration is seen in the sub-conjunctival stroma 3-4 days after eyelid opening, at P16, of pups treated with doxycycline

integument

alopecia ( J:194073 )

• adult mice administered doxycycline at P90, exhibit hair loss one month after doxycycline induction, with random alopecia on the body, including the eyelid within 3 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
keratoconjunctivitis sicca		DOID:12895		J:194073

Genotype
MGI:3691131

cn3

• Allelic Composition: Gt(ROSA)26Sor^{tm1(MAML1)Wsp}/Gt(ROSA)26Sor⁺; Tg(Tagln-cre)1Jjl/0
• Genetic Background: involves: CD-1 * FVB/N

growth/size/body

dermal cyst ( J:112093 )

• keratin cyst formation is observed

decreased body size ( J:112093 )

• generalized growth retardation is observed compared to controls

neoplasm

increased squamous cell carcinoma incidence ( J:112093 )

• mice develop spontaneous cutaneous SCC lesions, as well as dysplastic precursor lesions

limbs/digits/tail

abnormal tail morphology ( J:112093 )

• with aging, hyperkeratinization of tail is seen

integument

abnormal hair growth ( J:112093 )

• aberrant hair follicle cycling occurs

alopecia ( J:112093 )

• starting at 2-3 weeks, mice display hair and whisker loss; diffuse alopecia is observed

• at 10 months of age, alopecia has progressed almost to completion

abnormal dermal layer morphology ( J:112093 )

• hypoplastic dermis with increased cellularity is observed

• by 6 months of age, most mice develop hyperkeratotic cutaneous nodules, with all mutants exhibiting multiple lesions by 10 months of age

• examination of some nodules reveals papillomas or inflamed infundibular cyts

dermal cyst ( J:112093 )

• keratin cyst formation is observed

abnormal keratinocyte morphology ( J:112093 )

• cutaneous nodules show hyperproliferative keratinocytic lesions exhibiting cellular atypia and an invasive growth pattern

Genotype
MGI:3807513

cn4

• Allelic Composition: Gt(ROSA)26Sor^{tm1(MAML1)Wsp}/Gt(ROSA)26Sor⁺; Pax3^tm1(cre)Joe/Pax3⁺
• Genetic Background: Not Specified

nervous system

abnormal neural tube morphology ( J:130251 )

• there is a partial depletion of the progenitor zone in the neural tube of E12.5 embryos

• there is a minor decrease of under 10% in the number of dIL^B neurons found in embryos

loss of glutamate neurons ( J:130251 )

• mice exhibit a decrease in dIL^B neurons

decreased neuronal precursor cell number ( J:130251 )

• the progenitor domain is reduced compared to in wild-type mice

embryo

abnormal neural tube morphology ( J:130251 )

• there is a partial depletion of the progenitor zone in the neural tube of E12.5 embryos

• there is a minor decrease of under 10% in the number of dIL^B neurons found in embryos