Phenotypes associated with this allele

• Allele Symbol: Tg(CAG-cre)13Miya
• Allele Name: transgene insertion 13, Jun-ichi Miyazaki
• Allele ID: MGI:2176435
• Summary: 21 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tg(CAG-cre)13Miya/0 Trim33^tm1.1Los/Trim33^tm1.2Los	involves: 129 * 129S2/SvPas * C57BL/6 * SJL	MGI:4830330
cn2	Cul4b^tm1.1Pz/Cul4b^+ Tg(CAG-cre)13Miya/0	involves: 129 * C57BL/6 * C57BL/6J	MGI:5502171
cn3	Cul4b^tm1.1Pz/Y Tg(CAG-cre)13Miya/0	involves: 129 * C57BL/6 * C57BL/6J	MGI:5502170
cn4	Tg(CAG-cre)13Miya/0 Ube3a^tm1Yelg/Ube3a^+	involves: 129P2/OlaHsd * 129S2/SvPasCrl * C57BL/6J	MGI:5704116
cn5	Gt(ROSA)26Sor^tm1(Sall1)Ryn/Gt(ROSA)26Sor^+ Tg(CAG-cre)13Miya/0	involves: 129P2/OlaHsd * C57BL/6	MGI:4462842
cn6	Hmgb1^tm1.1Ttg/Hmgb1^tm1.2Ttg Tg(CAG-cre)13Miya/0	involves: 129P2/OlaHsd * C57BL/6	MGI:5563525
cn7	Ercc6^tm1Gvh/Ercc6^tm1Gvh Xpa^tm1Gvh/Xpa^tm1Hvs Tg(CAG-cre)13Miya/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:5312296
cn8	Xpa^tm1Gvh/Xpa^tm1Hvs Tg(CAG-cre)13Miya/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:5312289
cn9	Gt(ROSA)26Sor/Gt(ROSA)26Sor Igs4^tm1Hsas/Igs4^tm1Hsas Tg(CAG-cre)13Miya/0	involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6	MGI:5469309
cn10	Hras^tm1Jaf/Hras^+ Tg(CAG-cre)13Miya/0	involves: 129S6/SvEvTac * Black Swiss * C57BL/6	MGI:3845065
cn11	Rpl11^tm1.1Srn/Rpl11^+ Tg(CAG-cre)13Miya/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl	MGI:6510535
cn12	Rest^tm1.1Jhsi/Rest^tm1.1Jhsi Tg(CAG-cre)13Miya/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5141115
cn13	Smad4^tm1Rdp/Smad4^tm1.1Rdp Trim33^tm1.1Los/Trim33^tm1.2Los Tg(CAG-cre)13Miya/0	involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * SJL	MGI:4830328
cn14	Smad4^tm1Rdp/Smad4^tm1.1Rdp Tg(CAG-cre)13Miya/0	involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * SJL	MGI:4830329
cn15	Atg5^tm1Myok/Atg5^tm1Myok Tg(CAG-cre)13Miya/?	involves: 129S/SvEv * C57BL/6	MGI:3713121
cn16	Wnt4^tm1.1Svo/Wnt4^tm1.1Svo Tg(CAG-cre)13Miya/0	involves: 129/Sv * C57BL/6	MGI:4399125
cn17	Nfkbiz^tm1.1Muta/Nfkbiz^tm1.1Muta Tg(CAG-cre)13Miya/?	involves: C57BL/6	MGI:5501489
cn18	Tg(CAG-Isx)1Sse/? Tg(CAG-cre)13Miya/?	involves: C57BL/6	MGI:3778201
cn19	Sod2^tm1Shs/Sod2^tm1Shs Tg(CAG-cre)13Miya/0	involves: C57BL/6 * C57BL/6CrSlc	MGI:2653364
cn20	Odf2^tm1.1Sats/Odf2^tm1.2Sats Tg(CAG-cre)13Miya/0	involves: C57BL/6 * C57BL/6J	MGI:5313545
cn21	Mpst^tm1Nori/Mpst^+ Tg(CAG-cre)13Miya/0	involves: C57BL/6 * C57BL/6JJcl	MGI:5560978

Genotype
MGI:4830330

cn1

• Allelic Composition: Tg(CAG-cre)13Miya/0; Trim33^tm1.1Los/Trim33^tm1.2Los
• Genetic Background: involves: 129 * 129S2/SvPas * C57BL/6 * SJL

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

embryo

abnormal embryo development ( J:163858 )

• stated to be indistinguishable from mice homozygous for Trim33^tm1.2Ros

abnormal anterior visceral endoderm morphology ( J:163858 )

• expanded at E5.5

Genotype
MGI:5502171

cn2

• Allelic Composition: Cul4b^tm1.1Pz/Cul4b⁺; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:199210 )

♀ • no mice are identified beyond E13.5 when the allele is inherited maternally

♀ • however, live-born mice are produced when the allele is inherited paternally

embryo

abnormal vitelline vasculature morphology ( J:199210 )

♀ • underdeveloped branching vitelline vessels at E12.5 when the allele is inherited maternally

cardiovascular system

abnormal vitelline vasculature morphology ( J:199210 )

♀ • underdeveloped branching vitelline vessels at E12.5 when the allele is inherited maternally

Genotype
MGI:5502170

cn3

• Allelic Composition: Cul4b^tm1.1Pz/Y; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:199210 )

♂ • despite being present at E8.5, no mice are identified beyond E9.5

embryo

increased embryonic tissue cell apoptosis ( J:199210 )

♂ • in embryonic and extra-embryonic ectoderms

abnormal embryo development ( J:199210 )

♂ • at E7.5, mice exhibit compact, indiscernible, structures, underdeveloped cavities and absent ectoplacental cones compared with wild-type mice

abnormal ectoderm development ( J:199210 )

♂ • disorganized and reduced in size

embryonic growth arrest ( J:199210 )

♂

decreased embryo size ( J:199210 )

♂ • in 2 of 11 mice at E8.5

failure of primitive streak formation ( J:199210 )

♂

absent ectoplacental cone ( J:199210 )

♂ • at E7.5

growth/size/body

decreased embryo size ( J:199210 )

♂ • in 2 of 11 mice at E8.5

cellular

increased embryonic tissue cell apoptosis ( J:199210 )

♂ • in embryonic and extra-embryonic ectoderms

decreased cell proliferation ( J:199210 )

♂ • in E7.5 embryos and the placental cone and trophectoderm-derived tissues

Genotype
MGI:5704116

cn4

• Allelic Composition: Tg(CAG-cre)13Miya/0; Ube3a^tm1Yelg/Ube3a⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPasCrl * C57BL/6J

behavior/neurological

behavior/neurological phenotype ( J:222400 )

N • mice with a maternally inherited allele exhibit a full rescue of neurological and behavioral abnormalities (rotarod, marble burying, open field explorations, nest building, audiogenic seizure threshold, and forced swim test)

Genotype
MGI:4462842

cn5

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Sall1)Ryn}/Gt(ROSA)26Sor⁺; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

growth/size/body

decreased body weight ( J:162052 )

• body weights mice from 4 to 7 weeks after birth are significantly lower than those of wild-type

Genotype
MGI:5563525

cn6

• Allelic Composition: Hmgb1^tm1.1Ttg/Hmgb1^tm1.2Ttg; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:205499 )

• die shortly after birth

Genotype
MGI:5312296

cn7

• Allelic Composition: Ercc6^tm1Gvh/Ercc6^tm1Gvh; Xpa^tm1Gvh/Xpa^tm1Hvs; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

Ercc6^tm1Gvh/Ercc6^tm1Gvh Xpa^tm1Gvh/Xpa^tm1Hvs Tg(CAG-cre)13Miya/0 mice are severely reduced in size

mortality/aging

postnatal lethality, complete penetrance ( J:179808 )

behavior/neurological

abnormal gait ( J:179808 )

growth/size/body

cachexia ( J:179808 )

postnatal growth retardation ( J:179808 )

Genotype
MGI:5312289

cn8

• Allelic Composition: Xpa^tm1Gvh/Xpa^tm1Hvs; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

cellular

increased cellular sensitivity to ultraviolet irradiation ( J:179808 )

• in mouse embryonic fibroblasts

Genotype
MGI:5469309

cn9

• Allelic Composition: Gt(ROSA)26Sor/Gt(ROSA)26Sor; Igs4^tm1Hsas/Igs4^tm1Hsas; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6

cellular

cellular phenotype ( J:192826 )

N • reporter expression is recovered following cre-mediated removal of the neo sequence from the Watson piwiRNA generating locus on chromosome 17

Genotype
MGI:3845065

cn10

• Allelic Composition: Hras^tm1Jaf/Hras⁺; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss * C57BL/6

mortality/aging

premature death ( J:148393 )

• mice that survive until weaning continue to have a high mortality rate

postnatal lethality, incomplete penetrance ( J:148393 )

• greater than 80% of pups die in the first two weeks of life

craniofacial

abnormal tooth development ( J:204891 )

• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel

• increase in proliferation of progenitor cells in the cervical loop and transit-amplifying region of the tooth and the length of the transit-amplifying region is shorter

abnormal cervical loop morphology ( J:204891 )

• increase in proliferation of progenitor cells in the cervical loop

abnormal stellate reticulum morphology ( J:204891 )

• the stellate reticulum is disorganized

abnormal stratum intermedium morphology ( J:204891 )

• ameloblasts and the underlying stratum intermedium are disorganized and the well-defined border between ameloblasts and stratum intermedium is lost

abnormal enamel morphology ( J:204891 )

• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel

abnormal ameloblast morphology ( J:148393 , J:204891 )

• growth of ameloblasts is disorganized with detachment of the ameloblasts from the adjacent dentin, loss of polarity, and stratification occurring (J:148393)

• ameloblasts are disorganized, crowded and there is an increase in the number of ameloblasts at both the secretory and maturation stages (J:204891)

• ameloblasts have abnormal cell polarity at the secretory and maturation stages, with misorientation of nuclei and Golgi (J:204891)

abnormal ameloblast differentiation ( J:204891 )

• teeth show an increase in the distance between the cervical loop region and the appearance of the enamel protein amelogenin compared with controls, suggesting that ameloblasts show a delay in differentiation

abnormal enamel mineralization ( J:148393 , J:204891 )

• mice have irregular deposition of enamel (J:148393)

• incisor enamel is less densely mineralized at all stages examined and total volume of enamel is decreased, with enamel covering a decreased percent of the surface area of the tooth (J:204891)

abnormal enamel rod pattern ( J:204891 )

• the interdigitated and highly organized pattern is lost in the enamel of incisors and the enamel rods intersect at irregular angles and do not completely span the dentin-enamel junction to the enamel surface

absent enamel ( J:204891 )

• molars show little to no enamel

• treatment of mice with a MEK inhibitor for 28 days rescues the enamel defect

malocclusion ( J:148393 )

• malocclusion occurs in these mice

jaw cyst ( J:204891 )

• large cysts in the bone in the region of the third molar at P21

• cysts are lined by epithelium infiltrated by ghost cells, or aneucleic cells with basophilic granules

• cysts are near, but not associated with, the third molar, suggesting calcifying odontogenic cysts

• cysts are not observed at P70, indicating they resolve in adulthood

domed cranium ( J:148393 )

• the ratio of the cephalo-caudal to ventro-dorsal cranial axes is significantly smaller than controls

deviated nasal septum ( J:148393 )

• nasal septal deviation is prominent in these mice

growth/size/body

abnormal tooth development ( J:204891 )

• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel

• increase in proliferation of progenitor cells in the cervical loop and transit-amplifying region of the tooth and the length of the transit-amplifying region is shorter

abnormal cervical loop morphology ( J:204891 )

• increase in proliferation of progenitor cells in the cervical loop

abnormal stellate reticulum morphology ( J:204891 )

• the stellate reticulum is disorganized

abnormal stratum intermedium morphology ( J:204891 )

• ameloblasts and the underlying stratum intermedium are disorganized and the well-defined border between ameloblasts and stratum intermedium is lost

abnormal enamel morphology ( J:204891 )

• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel

abnormal ameloblast morphology ( J:148393 , J:204891 )

• growth of ameloblasts is disorganized with detachment of the ameloblasts from the adjacent dentin, loss of polarity, and stratification occurring (J:148393)

• ameloblasts are disorganized, crowded and there is an increase in the number of ameloblasts at both the secretory and maturation stages (J:204891)

• ameloblasts have abnormal cell polarity at the secretory and maturation stages, with misorientation of nuclei and Golgi (J:204891)

abnormal ameloblast differentiation ( J:204891 )

• teeth show an increase in the distance between the cervical loop region and the appearance of the enamel protein amelogenin compared with controls, suggesting that ameloblasts show a delay in differentiation

abnormal enamel mineralization ( J:148393 , J:204891 )

• mice have irregular deposition of enamel (J:148393)

• incisor enamel is less densely mineralized at all stages examined and total volume of enamel is decreased, with enamel covering a decreased percent of the surface area of the tooth (J:204891)

abnormal enamel rod pattern ( J:204891 )

• the interdigitated and highly organized pattern is lost in the enamel of incisors and the enamel rods intersect at irregular angles and do not completely span the dentin-enamel junction to the enamel surface

absent enamel ( J:204891 )

• molars show little to no enamel

• treatment of mice with a MEK inhibitor for 28 days rescues the enamel defect

malocclusion ( J:148393 )

• malocclusion occurs in these mice

jaw cyst ( J:204891 )

• large cysts in the bone in the region of the third molar at P21

• cysts are lined by epithelium infiltrated by ghost cells, or aneucleic cells with basophilic granules

• cysts are near, but not associated with, the third molar, suggesting calcifying odontogenic cysts

• cysts are not observed at P70, indicating they resolve in adulthood

deviated nasal septum ( J:148393 )

• nasal septal deviation is prominent in these mice

postnatal growth retardation ( J:148393 )

• mice that survive until weaning are runted but catch up in weight to controls by 20 weeks of age

behavior/neurological

abnormal suckling behavior ( J:148393 )

• the high mortality rate of neonates and the abnormal cranial/facial structures suggests pups have trouble suckling

neoplasm

increased stomach tumor incidence ( J:148393 )

• almost all mice develop papillomas in the forestomach by 13 months of age

increased hemangiosarcoma incidence ( J:148393 )

• angiosarcomas develop in about 40% of older mice

increased papilloma incidence ( J:148393 )

• papillomas are occasionally found in the anal epithelium

increased skin papilloma incidence ( J:148393 )

• 88% of mice develop skin papillomas by 58 weeks of age

• they are frequently found in the skull, face, and external auditory canal

cardiovascular system

cardiac fibrosis ( J:148393 )

• older mice (40-58 weeks) develop myocardial fibrosis

respiratory system

deviated nasal septum ( J:148393 )

• nasal septal deviation is prominent in these mice

skeleton

abnormal tooth development ( J:204891 )

• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel

• increase in proliferation of progenitor cells in the cervical loop and transit-amplifying region of the tooth and the length of the transit-amplifying region is shorter

abnormal cervical loop morphology ( J:204891 )

• increase in proliferation of progenitor cells in the cervical loop

abnormal stellate reticulum morphology ( J:204891 )

• the stellate reticulum is disorganized

abnormal stratum intermedium morphology ( J:204891 )

• ameloblasts and the underlying stratum intermedium are disorganized and the well-defined border between ameloblasts and stratum intermedium is lost

abnormal enamel morphology ( J:204891 )

• mice show residual enamel matrix, indicating that ameloblasts do not completely remove the enamel matrix to form properly mineralized enamel

abnormal ameloblast morphology ( J:148393 , J:204891 )

• growth of ameloblasts is disorganized with detachment of the ameloblasts from the adjacent dentin, loss of polarity, and stratification occurring (J:148393)

• ameloblasts are disorganized, crowded and there is an increase in the number of ameloblasts at both the secretory and maturation stages (J:204891)

• ameloblasts have abnormal cell polarity at the secretory and maturation stages, with misorientation of nuclei and Golgi (J:204891)

abnormal ameloblast differentiation ( J:204891 )

• teeth show an increase in the distance between the cervical loop region and the appearance of the enamel protein amelogenin compared with controls, suggesting that ameloblasts show a delay in differentiation

abnormal enamel mineralization ( J:148393 , J:204891 )

• mice have irregular deposition of enamel (J:148393)

• incisor enamel is less densely mineralized at all stages examined and total volume of enamel is decreased, with enamel covering a decreased percent of the surface area of the tooth (J:204891)

abnormal enamel rod pattern ( J:204891 )

• the interdigitated and highly organized pattern is lost in the enamel of incisors and the enamel rods intersect at irregular angles and do not completely span the dentin-enamel junction to the enamel surface

absent enamel ( J:204891 )

• molars show little to no enamel

• treatment of mice with a MEK inhibitor for 28 days rescues the enamel defect

malocclusion ( J:148393 )

• malocclusion occurs in these mice

jaw cyst ( J:204891 )

• large cysts in the bone in the region of the third molar at P21

• cysts are lined by epithelium infiltrated by ghost cells, or aneucleic cells with basophilic granules

• cysts are near, but not associated with, the third molar, suggesting calcifying odontogenic cysts

• cysts are not observed at P70, indicating they resolve in adulthood

domed cranium ( J:148393 )

• the ratio of the cephalo-caudal to ventro-dorsal cranial axes is significantly smaller than controls

integument

increased skin papilloma incidence ( J:148393 )

• 88% of mice develop skin papillomas by 58 weeks of age

• they are frequently found in the skull, face, and external auditory canal

digestive/alimentary system

increased stomach tumor incidence ( J:148393 )

• almost all mice develop papillomas in the forestomach by 13 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Costello syndrome		DOID:0050469	OMIM:218040	J:204891

Genotype
MGI:6510535

cn11

• Allelic Composition: Rpl11^tm1.1Srn/Rpl11⁺; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl

mortality/aging

prenatal lethality, complete penetrance ( J:292575 )

• no heterozygous pups are obtained indicating prenatal lethality

Genotype
MGI:5141115

cn12

• Allelic Composition: Rest^tm1.1Jhsi/Rest^tm1.1Jhsi; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

embryonic lethality, complete penetrance ( J:174056 )

• mice exhibit the same embryonic lethality phenotype as Rest^tm1And homozygotes

Genotype
MGI:4830328

cn13

• Allelic Composition: Smad4^tm1Rdp/Smad4^tm1.1Rdp; Trim33^tm1.1Los/Trim33^tm1.2Los; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * SJL

embryo

abnormal embryo development ( J:163858 )

• identical to mice null for Smad4 alone

absent anterior visceral endoderm ( J:163858 )

• not induced at E5.5

Genotype
MGI:4830329

cn14

• Allelic Composition: Smad4^tm1Rdp/Smad4^tm1.1Rdp; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * SJL

embryo

abnormal embryo development ( J:163858 )

• stated to phenocopy mice homozygous for Smad4^tm1Cxd

absent anterior visceral endoderm ( J:163858 )

• not induced at E5.5

Genotype
MGI:3713121

cn15

• Allelic Composition: Atg5^tm1Myok/Atg5^tm1Myok; Tg(CAG-cre)13Miya/?
• Genetic Background: involves: 129S/SvEv * C57BL/6

liver/biliary system

abnormal liver morphology ( J:110050 )

• diffuse cytoplasmic signals and inclusions are found in the liver

Genotype
MGI:4399125

cn16

• Allelic Composition: Wnt4^tm1.1Svo/Wnt4^tm1.1Svo; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: 129/Sv * C57BL/6

Impaired kidney development in Wnt4^tm1.1Svo/Wnt4^tm1.1Svo Tg(CAG-cre)13Miya/0 fetuses

renal/urinary system

abnormal kidney development ( J:154784 )

• kidney development is impaired and the kidneys remain rudimentary

Genotype
MGI:5501489

cn17

• Allelic Composition: Nfkbiz^tm1.1Muta/Nfkbiz^tm1.1Muta; Tg(CAG-cre)13Miya/?
• Genetic Background: involves: C57BL/6

vision/eye

eyelid edema ( J:194832 )

• swelling as early as 2 weeks of age

• inflammatory effects in all mice by 8 weeks

immune system

dermatitis ( J:194832 )

• mostly in the periocular region initially

• eventually spreads over the whole face, skin erosion and hair loss

integument

dermatitis ( J:194832 )

• mostly in the periocular region initially

• eventually spreads over the whole face, skin erosion and hair loss

homeostasis/metabolism

eyelid edema ( J:194832 )

• swelling as early as 2 weeks of age

• inflammatory effects in all mice by 8 weeks

growth/size/body

eyelid edema ( J:194832 )

• swelling as early as 2 weeks of age

• inflammatory effects in all mice by 8 weeks

craniofacial

eyelid edema ( J:194832 )

• swelling as early as 2 weeks of age

• inflammatory effects in all mice by 8 weeks

Genotype
MGI:3778201

cn18

• Allelic Composition: Tg(CAG-Isx)1Sse/?; Tg(CAG-cre)13Miya/?
• Genetic Background: involves: C57BL/6

mortality/aging

perinatal lethality, incomplete penetrance ( J:132176 )

• there is a high mortality rate at birth but those mice that do survive are apparently normal

Genotype
MGI:2653364

cn19

• Allelic Composition: Sod2^tm1Shs/Sod2^tm1Shs; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: C57BL/6 * C57BL/6CrSlc

mortality/aging

perinatal lethality, complete penetrance ( J:78889 )

• no mutant mice are obtained after natural birth; however, when delivered by C-section mutants are found to be viable, anatomically normal and of normal size at E18, suggesting that death occurs at an early neonatal stage

Genotype
MGI:5313545

cn20

• Allelic Composition: Odf2^tm1.1Sats/Odf2^tm1.2Sats; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: C57BL/6 * C57BL/6J

mortality/aging

postnatal lethality, incomplete penetrance ( J:181294 )

• gradual decrease in survival after birth with only 20% surviving beyond weaning

digestive/alimentary system

abnormal gastrointestinal motility ( J:181294 )

• impaired

respiratory system

abnormal respiratory motile cilium morphology ( J:181294 )

• the number of cilia per single multiciliated tracheal cell is reduced

• however, cilia length is similar to wild-type controls

• in tracheal cilia some basal bodies fail to position apically and the basal foot is absent

• in tracheal cilia the rotational polarity of axonemes is scattered

decreased respiratory motile cilia number ( J:181294 )

• the number of cilia per single multiciliated tracheal cell is reduced

abnormal respiratory motile cilium physiology ( J:181294 )

• coordinated tracheal ciliary beating is disturbed with the direction of beating dispersed rather than in the lung to oral direction seen in wild-type mice

sinus inflammation ( J:181294 )

impaired mucociliary clearance ( J:181294 )

• in ex vivo bead assay the flow of fluorescent beads reveals only limited uncoordinated movement

abnormal respiratory sounds ( J:181294 )

• display a coughing/sneezing like phenotype

coughing ( J:181294 )

• coughing like phenotype

sneezing ( J:181294 )

• sneezing like phenotype

cellular

cellular phenotype ( J:181294 )

N • unexpectedly mice are born with primary cilia

abnormal cilium morphology ( J:181294 )

• tendency toward a decrease in the number of cilia per cell in multiciliated cells in the oviduct and brain ventricle

• in cilia in the trachea, oviduct and brain ventricle basal feet are absent

abnormal brain ependyma motile cilium morphology ( J:181294 )

• in cilia basal feet are absent

decreased brain ependyma motile cilium number ( J:181294 )

• tendency toward a decrease in the number of cilia per cell in multiciliated cells

decreased embryonic cilium length ( J:181294 )

• about 30% shorter than in wild-type controls

abnormal oviduct epithelium motile cilium morphology ( J:181294 )

♀ • tendency toward a decrease in the number of cilia per cell in multiciliated cells

♀ • in cilia basal feet are absent

abnormal respiratory motile cilium morphology ( J:181294 )

• the number of cilia per single multiciliated tracheal cell is reduced

• however, cilia length is similar to wild-type controls

• in tracheal cilia some basal bodies fail to position apically and the basal foot is absent

• in tracheal cilia the rotational polarity of axonemes is scattered

decreased respiratory motile cilia number ( J:181294 )

• the number of cilia per single multiciliated tracheal cell is reduced

abnormal respiratory motile cilium physiology ( J:181294 )

• coordinated tracheal ciliary beating is disturbed with the direction of beating dispersed rather than in the lung to oral direction seen in wild-type mice

embryo

decreased embryonic cilium length ( J:181294 )

• about 30% shorter than in wild-type controls

growth/size/body

decreased body weight ( J:181294 )

• about 70 - 80% of wild-type littermates

reproductive system

abnormal oviduct epithelium motile cilium morphology ( J:181294 )

♀ • tendency toward a decrease in the number of cilia per cell in multiciliated cells

♀ • in cilia basal feet are absent

nervous system

abnormal brain ependyma motile cilium morphology ( J:181294 )

• in cilia basal feet are absent

decreased brain ependyma motile cilium number ( J:181294 )

• tendency toward a decrease in the number of cilia per cell in multiciliated cells

hydrocephaly ( J:181294 )

• slight tendency for hydrocephaly

immune system

immune system phenotype ( J:181294 )

N • no increases in inflammation levels in the lung are detected in mice kept in specific pathogen free conditions

increased susceptibility to otitis media ( J:181294 )

sinus inflammation ( J:181294 )

hearing/vestibular/ear

increased susceptibility to otitis media ( J:181294 )

Genotype
MGI:5560978

cn21

• Allelic Composition: Mpst^tm1Nori/Mpst⁺; Tg(CAG-cre)13Miya/0
• Genetic Background: involves: C57BL/6 * C57BL/6JJcl

reproductive system

reproductive system phenotype ( J:207803 )

♀N • female mice exhibit no abnormalities

abnormal spermatocyte morphology ( J:207803 )

♂ • severe spermatogenic hypoplasia

increased Leydig cell number ( J:207803 )

♂

testis hypoplasia ( J:207803 )

♂ • focal with vacuolar degeneration

male infertility ( J:207803 )

♂ • in two-thirds of mice

endocrine/exocrine glands

increased Leydig cell number ( J:207803 )

♂

testis hypoplasia ( J:207803 )

♂ • focal with vacuolar degeneration

cellular

abnormal spermatocyte morphology ( J:207803 )

♂ • severe spermatogenic hypoplasia