Phenotypes associated with this allele

• Allele Symbol: Tg(Six2-EGFP/cre)1Amc
• Allele Name: transgene insertion 1, Andrew P McMahon
• Allele ID: MGI:3845228
• Summary: 16 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dll1^tm1Mjo/Dll1^tm1Mjo Tg(Six2-EGFP/cre)1Amc/0	involves: 129 * C57BL/6 * CD-1	MGI:5523690
cn2	Drosha^tm1Litt/Drosha^tm1Litt Tg(Six2-EGFP/cre)1Amc/0	involves: 129P2/OlaHsd * CD-1	MGI:6887995
cn3	Col1a1^tm2(tetO-LIN28B)Gqda/Col1a1^+ Gt(ROSA)26Sor^tm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor^+ Tg(Six2-EGFP/cre)1Amc/0	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1	MGI:5638867
cn4	Tg(EIF1AX-Lin28a)#Gqda/0 Tg(Six2-EGFP/cre)1Amc/0	involves: 129S4/SvJae * C57BL/6 * CD-1	MGI:5638868
cn5	Gt(ROSA)26Sor^tm1.1(CAG-YFP/DROSHA*E1147K)Gess/Gt(ROSA)26Sor^tm1.1(CAG-YFP/DROSHA*E1147K)Gess Tg(Six2-EGFP/cre)1Amc/0	involves: 129S6/SvEvTac * C57BL/6 * CD-1	MGI:6887991
cn6	Dll1^tm1Mjo/Dll1^tm1Mjo Jag1^tm1Frad/Jag1^tm1Frad Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523692
cn7	Dll1^tm1Mjo/Dll1^tm1Mjo Jag1^tm1Frad/Jag1^+ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523691
cn8	Jag1^tm1Frad/Jag1^+ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523696
cn9	Jag1^tm1Frad/Jag1^tm1Frad Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523695
cn10	Dll1^tm1Mjo/Dll1^+ Jag1^tm1Frad/Jag1^+ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523694
cn11	Dll1^tm1Mjo/Dll1^+ Jag1^tm1Frad/Jag1^tm1Frad Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523693
cn12	Atp6ap2^tm1.1Aich/Atp6ap2^+ Tg(Six2-EGFP/cre)1Amc/0	involves: C57BL/6 * CD-1	MGI:6357740
cn13	Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich Tg(Six2-EGFP/cre)1Amc/0	involves: C57BL/6 * CD-1	MGI:6357739
cn14	Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^tm1c(EUCOMM)Wtsi Tg(Six2-EGFP/cre)1Amc/0	involves: C57BL/6J * C57BL/6N * CD-1	MGI:7657839
cn15	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Tg(Six2-EGFP/cre)1Amc/0	involves: C57BL/6J * C57BL/6N * CD-1	MGI:7657838
cn16	Cnnm2^tm1Hmik/Cnnm2^tm1Hmik Tg(Six2-EGFP/cre)1Amc/0	involves: C57BL/6J * CD-1	MGI:6690619

Genotype
MGI:5523690

cn1

• Allelic Composition: Dll1^tm1Mjo/Dll1^tm1Mjo; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129 * C57BL/6 * CD-1

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

renal/urinary system

abnormal nephron morphogenesis ( J:198632 )

• nephron development is mildly disrupted

Genotype
MGI:6887995

cn2

• Allelic Composition: Drosha^tm1Litt/Drosha^tm1Litt; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129P2/OlaHsd * CD-1

renal/urinary system

increased kidney apoptosis ( J:321428 )

• increased apoptosis of cortical and central mesenchymal and epithelial cells

• normal apoptosis of stromal cells

abnormal kidney morphology ( J:321428 )

• increase in stromal tissue in newborns

polycystic kidney ( J:321428 )

• cystic dilation of renal tubules in newborns

abnormal renal glomerulus morphology ( J:321428 )

• no mature glomeruli in E18.5 embryos and in newborns

decreased renal glomerulus number ( J:321428 )

• reduced number of glomeruli in E16.5 embryos

abnormal kidney development ( J:321428 )

• reduced number of S-shaped bodies in E13.5 embryos with further reduction at E16.5

• immature comma- and S-shaped bodies in E16.5 embryos

• no mature glomeruli in E18.5 embryos and in newborns

abnormal nephrogenic zone morphology ( J:321428 )

• thin and discontinuous cortical nephrogenic zone

renal hypoplasia ( J:321428 )

• smaller kidneys with reduced tubular structures in newborns

dilated renal tubule ( J:321428 )

• cystic dilation in newborns

absent kidney ( J:321428 )

• at least one absent kidney in 36% of E16.5 embryos, both absent in 6.5%

mortality/aging

perinatal lethality, complete penetrance ( J:321428 )

• early perinatal mortality: no offspring beyond weaning stage

cellular

increased kidney apoptosis ( J:321428 )

• increased apoptosis of cortical and central mesenchymal and epithelial cells

• normal apoptosis of stromal cells

behavior/neurological

decreased food intake ( J:321428 )

• smaller milk spot in newborns

decreased locomotor activity ( J:321428 )

• in newborns

cardiovascular system

congestive heart failure ( J:321428 )

• causing death within hours of birth

homeostasis/metabolism

cyanosis ( J:321428 )

• in newborns

pulmonary edema ( J:321428 )

• causing death within hours of birth

growth/size/body

polycystic kidney ( J:321428 )

• cystic dilation of renal tubules in newborns

respiratory system

pulmonary edema ( J:321428 )

• causing death within hours of birth

respiratory distress ( J:321428 )

• gasping in newborns

Genotype
MGI:5638867

cn3

• Allelic Composition: Col1a1^{tm2(tetO-LIN28B)Gqda}/Col1a1⁺; Gt(ROSA)26Sor^{tm1(rtTA,EGFP)Nagy}/Gt(ROSA)26Sor⁺; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1

renal/urinary system

kidney cyst ( J:211179 )

• mice develop cystic kidneys when transgene expression is induced with doxycycline early in embryonic development or in adult mice

neoplasm

neoplasm ( J:211179 )

N • mice do not develop renal tumors following doxycycline induction

growth/size/body

kidney cyst ( J:211179 )

• mice develop cystic kidneys when transgene expression is induced with doxycycline early in embryonic development or in adult mice

Genotype
MGI:5638868

cn4

• Allelic Composition: Tg(EIF1AX-Lin28a)#Gqda/0; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1

renal/urinary system

kidney cyst ( J:211179 )

• mice develop cystic kidneys

neoplasm

neoplasm ( J:211179 )

N • mice do not develop renal tumors

growth/size/body

kidney cyst ( J:211179 )

• mice develop cystic kidneys

Genotype
MGI:6887991

cn5

• Allelic Composition: Gt(ROSA)26Sor^{tm1.1(CAG-YFP/DROSHA*E1147K)Gess}/Gt(ROSA)26Sor^{tm1.1(CAG-YFP/DROSHA*E1147K)Gess}; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CD-1

cellular

increased kidney apoptosis ( J:321428 )

• increased apoptosis of epithelial cells and in nephrogenic zone

growth/size/body

postnatal growth retardation ( J:321428 )

• severe growth retardation

homeostasis/metabolism

increased urine protein level ( J:321428 )

• extensive protein deposits in kidney tubules by age P28

renal/urinary system

increased kidney apoptosis ( J:321428 )

• increased apoptosis of epithelial cells and in nephrogenic zone

increased urine protein level ( J:321428 )

• extensive protein deposits in kidney tubules by age P28

glomerulosclerosis ( J:321428 )

• increasing with age

abnormal nephrogenic zone morphology ( J:321428 )

• reduced and patchy Six2, absent Sited1 and early loss of Wt1 expression in E16.5 embryos

renal hypoplasia ( J:321428 )

• smaller kidneys

abnormal renal tubule morphology ( J:321428 )

• severely impaired tubular maturation

absent kidney ( J:321428 )

• at least one absent kidney in 23% of E16.5 embryos, both absent in 1.8%

mortality/aging

mortality/aging ( J:321428 )

N • viable; survive from 38 to 283 days

neoplasm

neoplasm ( J:321428 )

N • no kidney tumor development in mice up to 283 days old

Genotype
MGI:5523692

cn6

• Allelic Composition: Dll1^tm1Mjo/Dll1^tm1Mjo; Jag1^tm1Frad/Jag1^tm1Frad; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

renal/urinary system

decreased nephron number ( J:198632 )

• almost all nephrons are absent

Genotype
MGI:5523691

cn7

• Allelic Composition: Dll1^tm1Mjo/Dll1^tm1Mjo; Jag1^tm1Frad/Jag1⁺; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

renal/urinary system

abnormal nephron morphogenesis ( J:198632 )

decreased nephron number ( J:198632 )

• nephron number is severely compromised, but some podocytes form

Genotype
MGI:5523696

cn8

• Allelic Composition: Jag1^tm1Frad/Jag1⁺; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

renal/urinary system

renal/urinary system phenotype ( J:198632 )

N • nephron development appears essentially normal

Genotype
MGI:5523695

cn9

• Allelic Composition: Jag1^tm1Frad/Jag1^tm1Frad; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

renal/urinary system

decreased nephron number ( J:198632 )

• nephron number is highly reduced

Genotype
MGI:5523694

cn10

• Allelic Composition: Dll1^tm1Mjo/Dll1⁺; Jag1^tm1Frad/Jag1⁺; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

renal/urinary system

renal/urinary system phenotype ( J:198632 )

N • nephron development appears essentially normal

Genotype
MGI:5523693

cn11

• Allelic Composition: Dll1^tm1Mjo/Dll1⁺; Jag1^tm1Frad/Jag1^tm1Frad; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

renal/urinary system

absent podocytes ( J:198632 )

• podocytes are almost entirely absent; one allele of Dll1 cannot support podocyte production

Genotype
MGI:6357740

cn12

• Allelic Composition: Atp6ap2^tm1.1Aich/Atp6ap2⁺; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CD-1

renal/urinary system

albuminuria ( J:228872 )

♀ • increase in urinary albumin excretion

glomerulosclerosis ( J:228872 )

♀ • focal glomerulosclerosis

decreased kidney weight ( J:228872 )

♀ • kidney weight is reduced at 2 months of age

homeostasis/metabolism

increased circulating creatinine level ( J:228872 )

♀

albuminuria ( J:228872 )

♀ • increase in urinary albumin excretion

Genotype
MGI:6357739

cn13

• Allelic Composition: Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CD-1

mortality/aging

postnatal lethality, complete penetrance ( J:228872 )

♀ • mice die within 48 hours of birth

renal/urinary system

kidney medulla cyst ( J:228872 )

♀ • kidneys have many cysts in the cortex and outer medulla at P0

abnormal kidney cortex morphology ( J:228872 )

♀ • thin kidney cortex at P0

kidney cortex cyst ( J:228872 )

♀ • kidneys have many cysts in the cortex and outer medulla at P0

abnormal kidney development ( J:228872 )

♀ • decreased nephrogenesis, with premature depletion of the progenitor cell population within the cap mesenchyme

♀ • the cap mesenchyme shows fewer proliferating cells, however apoptosis is no different from controls

abnormal metanephric mesenchyme morphology ( J:228872 )

♀ • marker analysis shows reduced inductive and differentiation response within the metanephric mesenchyme

abnormal nephrogenic zone morphology ( J:228872 )

♀ • kidneys lack a well-defined nephrogenic zone at P0

small kidney ( J:228872 )

♀ • kidneys are reduced in size at E13.5 and in newborns

decreased kidney weight ( J:228872 )

♀ • kidney weight is lower in newborns

abnormal nephron morphology ( J:228872 )

♀ • nephron structure volume compared to total kidney volume is reduced at E12.5

podocyte foot process effacement ( J:228872 )

♀ • in newborns

abnormal renal glomerulus morphology ( J:228872 )

♀ • developing glomeruli volume and average size are reduced at E12.5

abnormal nephron morphogenesis ( J:228872 )

♀ • nascent nephrons reach the renal vesicle stage but do not develop beyond

♀ • kidneys show less developed epithelial structures at E13.5, with embryos having few vesicles and comma-shaped nephron structures

♀ • all stages of nephron development are reduced at P0 and marker analysis shows that nephron induction and specification of proximal nephron segments are impaired at birth

abnormal S-shaped body morphology ( J:228872 )

♀ • the number of S-shaped bodies is reduced at E12.5

♀ • however, renal vesicle number is not different at E12.5

abnormal comma shaped body morphology ( J:228872 )

♀ • the number of comma-shaped bodies is reduced at E12.5

decreased nephron number ( J:228872 )

♀ • decrease in the number of nephrons at P0

impaired branching involved in ureteric bud morphogenesis ( J:228872 )

♀ • ureteric bud branching is reduced at E13.5

growth/size/body

kidney cortex cyst ( J:228872 )

♀ • kidneys have many cysts in the cortex and outer medulla at P0

kidney medulla cyst ( J:228872 )

♀ • kidneys have many cysts in the cortex and outer medulla at P0

Genotype
MGI:7657839

cn14

• Allelic Composition: Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15^{tm1c(EUCOMM)Wtsi}; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * CD-1
• Cell Lines: EPD0177_1_E09

renal/urinary system

renal/urinary system phenotype ( J:344153 )

• at 2-4 months of age, mice exhibit normal kidney morphology with no alterations in blood urea nitrogen (BUN) levels relative to controls, indicating normal kidney function

Genotype
MGI:7657838

cn15

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * CD-1

renal/urinary system

renal interstitial fibrosis ( J:344153 )

• mice develop severe interstitial renal fibrosis with aging, as seen in patients with Scalp-Ear-Nipple (SEN) syndrome

abnormal distal convoluted tubule morphology ( J:344153 )

• mice show a terminal differentiation defect in the distal convoluted tubule (DCT)

dilated distal convoluted tubule ( J:344153 )

• at 3 months of age, mice show abnormal and dilated distal nephron segments in the kidney cortex

abnormal kidney physiology ( J:344153 )

• adult mice exhibit a distal nephron defect resulting in impaired renal function

homeostasis/metabolism

increased blood urea nitrogen level ( J:344153 )

• mice exhibit elevated BUN at 2-4 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scalp-ear-nipple syndrome		DOID:0111550	OMIM:181270	J:344153

Genotype
MGI:6690619

cn16

• Allelic Composition: Cnnm2^tm1Hmik/Cnnm2^tm1Hmik; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6J * CD-1

cardiovascular system

decreased systemic arterial diastolic blood pressure ( J:303151 )

decreased systemic arterial systolic blood pressure ( J:303151 )

• in untreated animals and in mice subjected to unilateral nephrectomy and deoxycorticosterone acetate (DOCA)-salt treatment

homeostasis/metabolism

decreased circulating magnesium level ( J:303151 )

• reduced serum magnesium level

• normal urine and fecal magnesium level

• normal serum and urine calcium, sodium and potassium levels

growth/size/body

growth/size/body region phenotype ( J:303151 )

N • no gross abnormalities

mortality/aging

mortality/aging ( J:303151 )

N • viable