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Phenotypes Associated with This Genotype
Genotype
MGI:3832875
Allelic
Composition
bpck/bpck
Genetic
Background
B6C3Fe a/a-bpck/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
bpck mutation (1 available); any bpck mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes typically die from bilateral polycystic nephropathy by 3 weeks of age (J:144929)
• homozygotes typically die from bilateral polycystic nephropathy by 3 weeks of age (J:144929)
• only 20.5% of offspring of heterozygous intercrosses are mutants, less than Mendelian prediction (J:144929)
• only 20.5% of offspring of heterozygous intercrosses are mutants, less than Mendelian prediction (J:144929)

renal/urinary system
• at birth, the primary cilia on the epithelial cells in cystic tubules appear dysmorphic and vary in length (J:144929)
• at P3, some cilia appear elongated (J:144929)
• by P14 and P20, many cilia are significantly longer than normal (J:144929)
• at birth, the primary cilia on the epithelial cells in cystic tubules appear dysmorphic and vary in length (J:144929)
• at P3, some cilia appear elongated (J:144929)
• by P14 and P20, many cilia are significantly longer than normal (J:144929)
• at P3 to P5, most cysts are found in cortical distal tubules with some cysts seen in collecting ducts (J:144929)
• by P14, most of the cysts are in collecting ducts and collecting tubules (J:144929)
• at both stages, proximal tubules appear normal or only slightly dilated (J:144929)
• cysts are found as early as E16 and earlier assessment remains to be done (J:144929)
• at P3 to P5, most cysts are found in cortical distal tubules with some cysts seen in collecting ducts (J:144929)
• by P14, most of the cysts are in collecting ducts and collecting tubules (J:144929)
• at both stages, proximal tubules appear normal or only slightly dilated (J:144929)
• cysts are found as early as E16 and earlier assessment remains to be done (J:144929)

endocrine/exocrine glands
• although ovaries appear normal by light microscopy, they are smaller than those of wild-type siblings and failure of many ovarian transplants indicates ovarian dysfunction (J:144929)
• although ovaries appear normal by light microscopy, they are smaller than those of wild-type siblings and failure of many ovarian transplants indicates ovarian dysfunction (J:144929)
(J:144929)
(J:144929)

nervous system
• higher than normal incidence, usually detectable within a few days of birth (J:144929)
• higher than normal incidence, usually detectable within a few days of birth (J:144929)

growth/size/body
• grossly enlarged polycystic kidneys result in visible swelling of the abdomen (J:144929)
• grossly enlarged polycystic kidneys result in visible swelling of the abdomen (J:144929)

reproductive system
• although ovaries appear normal by light microscopy, they are smaller than those of wild-type siblings and failure of many ovarian transplants indicates ovarian dysfunction (J:144929)
• although ovaries appear normal by light microscopy, they are smaller than those of wild-type siblings and failure of many ovarian transplants indicates ovarian dysfunction (J:144929)
(J:144929)
(J:144929)
• at 3 weeks of age the progression of maturing cells from spermatocytes to spermatids appears disorganized with degenerating cells present (J:144929)
• at 3 weeks of age the progression of maturing cells from spermatocytes to spermatids appears disorganized with degenerating cells present (J:144929)

homeostasis/metabolism
• by 2 weeks of age (J:144929)
• by 2 weeks of age (J:144929)

hematopoietic system

embryogenesis
N
• although some Meckel Syndrome Type 3 patients have occipital encephalocele and cerebellar abnormalities, these homozygotes do not (J:144929)
• although some primary cilium defects are associated with situs inversus, these homozygotes do not show any laterality anomalies (J:144929)
• although some Meckel Syndrome Type 3 patients have occipital encephalocele and cerebellar abnormalities, these homozygotes do not (J:144929)
• although some primary cilium defects are associated with situs inversus, these homozygotes do not show any laterality anomalies (J:144929)

limbs/digits/tail
N
• although some Meckel Syndrome Type 3 patients have polydactyly, these homozygotes do not (J:144929)
• although some Meckel Syndrome Type 3 patients have polydactyly, these homozygotes do not (J:144929)

liver/biliary system
N
• although some Meckel Syndrome Type 3 patients have hepatic ductal dysplasia and cysts, these homozygotes do not (J:144929)
• although some Meckel Syndrome Type 3 patients have hepatic ductal dysplasia and cysts, these homozygotes do not (J:144929)

cellular
• at birth, the primary cilia on the epithelial cells in cystic tubules appear dysmorphic and vary in length (J:144929)
• at P3, some cilia appear elongated (J:144929)
• by P14 and P20, many cilia are significantly longer than normal (J:144929)
• at birth, the primary cilia on the epithelial cells in cystic tubules appear dysmorphic and vary in length (J:144929)
• at P3, some cilia appear elongated (J:144929)
• by P14 and P20, many cilia are significantly longer than normal (J:144929)

Mouse Models of Human Disease
OMIM ID Ref(s)
Meckel Syndrome, Type 3; MKS3 607361 J:144929


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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory