Mouse Genome Informatics
hm
    bpck/bpck
B6C3Fe a/a-bpck/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• homozygotes typically die from bilateral polycystic nephropathy by 3 weeks of age
• only 20.5% of offspring of heterozygous intercrosses are mutants, less than Mendelian prediction

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

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)
(J:144929)

nervous system
• higher than normal incidence, usually detectable within a few days of birth

growth/size
• grossly enlarged polycystic kidneys result in visible swelling of the abdomen

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)
(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

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)

limbs/digits/tail
N
• 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)

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

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