mortality/aging
• Background Sensitivity: this phenotype is more severe on an inbred C57BL/6 background than on a mixed 129 C57BL/6 background
(J:73316)
• all homozygotes die from polycystic kidney disease between 3 and 8 weeks of age
(J:73316)
• all homozygotes die from polycystic kidney disease between 2 and 4 weeks of age
(J:104487)
• die by 50 days of age from the renal failure induced by polycystic kidney disease (PKD)
(J:153846)
|
growth/size/body
short ears
(
J:73316
)
• all homozygotes have short ears
|
• Background Sensitivity: this phenotype is more severe on an inbred C57BL/6 background than on a mixed 129 C57BL/6 background
(J:73316)
• some cysts are present at P0
(J:73316)
|
• all homozygotes die from polycystic kidney disease between 3 and 8 weeks of age
(J:73316)
• die by 50 days of age from the renal failure induced by polycystic kidney disease (PKD)
(J:153846)
|
• Background Sensitivity: this phenotype is more severe on an inbred C57BL/6 background than on a mixed 129 C57BL/6 background
(J:73316)
• all homozygotes become runted
(J:73316)
• become runted
(J:153846)
|
• decreased body weight at day 40
|
hearing/vestibular/ear
short ears
(
J:73316
)
• all homozygotes have short ears
|
immune system
• presence of many apoptotic cell clusters
|
• irradiated mice reconstituted with mutant fetal liver cells have a 4- to 5- fold reduction in lymphocytes and myeloid cells compared to controls
|
• 5-10 mg vs. 60-100 mg in wild type
|
• atrophied spleen
|
• very few lymphoid follicles
|
• survival of mature resting T and B cells in the absence of cytokines is impaired compared to wild-type cells
(J:73316)
|
• less than 1% of B cells are alive after 4 days of culturing without cytokines compared to over 10% of controls
|
• less than 1% of T cells are alive after 4 days of culturing without cytokines compared to over 10% of controls
• culturing with IL-7 fails to rescue T cells from apoptosis
|
renal/urinary system
• Background Sensitivity: this phenotype is more severe on an inbred C57BL/6 background than on a mixed 129 C57BL/6 background
(J:73316)
• some cysts are present at P0
(J:73316)
|
• all homozygotes die from polycystic kidney disease between 3 and 8 weeks of age
(J:73316)
• die by 50 days of age from the renal failure induced by polycystic kidney disease (PKD)
(J:153846)
|
• at E15.5 metanephroi are smaller mostly as a result of reduced mesenchymal area of the cortex
• neonates have fewer nephrons and a narrower nephrogenic area
|
• at E15.5 the mesenchymal area of the cortex is reduced
|
• at E15.5 metanephroi are smaller mostly as a result of reduced mesenchymal area of the cortex
|
• neonates exhibit a narrower nephrogenic area
|
• neonates have fewer nephrons
|
craniofacial
short ears
(
J:73316
)
• all homozygotes have short ears
|
hematopoietic system
• presence of many apoptotic cell clusters
|
• irradiated mice reconstituted with mutant fetal liver cells have a 4- to 5- fold reduction in lymphocytes and myeloid cells compared to controls
|
• 5-10 mg vs. 60-100 mg in wild type
|
• atrophied spleen
|
• very few lymphoid follicles
|
• survival of mature resting T and B cells in the absence of cytokines is impaired compared to wild-type cells
(J:73316)
|
• less than 1% of B cells are alive after 4 days of culturing without cytokines compared to over 10% of controls
|
• less than 1% of T cells are alive after 4 days of culturing without cytokines compared to over 10% of controls
• culturing with IL-7 fails to rescue T cells from apoptosis
|
cellular
• less than 1% of B cells are alive after 4 days of culturing without cytokines compared to over 10% of controls
|
• less than 1% of T cells are alive after 4 days of culturing without cytokines compared to over 10% of controls
• culturing with IL-7 fails to rescue T cells from apoptosis
|
• presence of many apoptotic cell clusters
|