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Phenotypes Associated with This Genotype
Genotype
MGI:5587035
Allelic
Composition
Ttc21btm2c(KOMP)Wtsi/Ttc21baln
Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * A/J * C57BL/6N
Cell Lines EPD0041_2_E09
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(cre/ERT)Nat mutation (2 available); any Gt(ROSA)26Sor mutation (993 available)
Ttc21baln mutation (0 available); any Ttc21b mutation (52 available)
Ttc21btm2c(KOMP)Wtsi mutation (0 available); any Ttc21b mutation (52 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• an increase in cell proliferation is seen in kidney tubules of 6-week old offspring from pregnant females injected with tamoxifen at E17.5
• from P15 to P20, an increase in cell proliferation in the renal medulla is seen the offspring of females injected with tamoxifen at E17.5
• levels of cAMP are higher in cystic kidneys of the offspring of E17.5 pregnant females injected with tamoxifen
• kidney primary cilia are stunted and show accumulation of IFT88 protein in bulb-like structures at the distal tips in the offspring of E17.5 pregnant females injected with tamoxifen
• from P15 to P20, an increase in cell proliferation in the renal medulla is seen the offspring of females injected with tamoxifen at E17.5
• when E17.5 pregnant females are injected intraperitoneally with tamoxifen to induce ubiquitous deletion of Ttc21b, the 6 week old offspring develop cystic kidney disease
• cysts seen in the offspring of E17.5 pregnant females injected with tamoxifen originate from proximal tubules, loops of Henle, and collecting ducts
• 5 week old mice injected intraperitoneally with tamoxifen do not develop kidney cysts after 3 months
• kidneys from offspring of E17.5 pregnant females grown in culture in the presence of 8-bromo-cAMP exhibit increased cystogenic potential and treatment of these cultures with Gant61, a small molecule GLI antagonist, or Sant2, a small molecule SMO antagonist, inhibitors reduces cystogenic potential
• elevation in ratio of percent kidney weight to body weight is seen in the offspring of E17.5 pregnant females injected with tamoxifen
• dilations of loops of Henle in the kidney cortex are seen by P15 in the offspring of pregnant females injected with tamoxifen at E17.5
• dilations of proximal tubules in the kidney cortex are seen by P15 in the offspring of pregnant females injected with tamoxifen at E17.5

homeostasis/metabolism
• increase in BUN levels is seen in the offspring of E17.5 pregnant females injected with tamoxifen

cellular
• kidney primary cilia are stunted and show accumulation of IFT88 protein in bulb-like structures at the distal tips in the offspring of E17.5 pregnant females injected with tamoxifen
• from P15 to P20, an increase in cell proliferation in the renal medulla is seen the offspring of females injected with tamoxifen at E17.5
• an increase in cell proliferation is seen in kidney tubules of 6-week old offspring from pregnant females injected with tamoxifen at E17.5
• from P15 to P20, an increase in cell proliferation in the renal medulla is seen the offspring of females injected with tamoxifen at E17.5

growth/size/body
• when E17.5 pregnant females are injected intraperitoneally with tamoxifen to induce ubiquitous deletion of Ttc21b, the 6 week old offspring develop cystic kidney disease
• cysts seen in the offspring of E17.5 pregnant females injected with tamoxifen originate from proximal tubules, loops of Henle, and collecting ducts
• 5 week old mice injected intraperitoneally with tamoxifen do not develop kidney cysts after 3 months
• kidneys from offspring of E17.5 pregnant females grown in culture in the presence of 8-bromo-cAMP exhibit increased cystogenic potential and treatment of these cultures with Gant61, a small molecule GLI antagonist, or Sant2, a small molecule SMO antagonist, inhibitors reduces cystogenic potential
• elevation in ratio of percent kidney weight to body weight is seen in the offspring of E17.5 pregnant females injected with tamoxifen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cystic kidney disease DOID:2975 J:213263


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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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory