Phenotypes Associated with This Genotype

Genotype
MGI:3832875

• Allelic Composition: bpck/bpck
• Genetic Background: B6C3Fe a/a-bpck/J

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

mortality/aging

postnatal lethality, complete penetrance ( J:144929 )

• homozygotes typically die from bilateral polycystic nephropathy by 3 weeks of age

prenatal lethality, incomplete penetrance ( J:144929 )

• only 20.5% of offspring of heterozygous intercrosses are mutants, less than Mendelian prediction

renal/urinary system

abnormal kidney epithelial cell primary cilium morphology ( J:144929 )

• at birth, the primary cilia on the epithelial cells in cystic tubules appear dysmorphic and vary in length

increased kidney epithelial cell primary cilium length ( J:144929 )

• at P3, some cilia appear elongated

• by P14 and P20, many cilia are significantly longer than normal

polycystic kidney ( J:144929 )

• 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

small ovary ( 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

small testis ( J:144929 )

♂

nervous system

hydrocephaly ( J:144929 )

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

growth/size/body

polycystic kidney ( J:144929 )

• 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

decreased body size ( J:144929 )

distended abdomen ( J:144929 )

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

reproductive system

small ovary ( 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

small testis ( J:144929 )

♂

abnormal spermatogenesis ( J:144929 )

♂ • at 3 weeks of age the progression of maturing cells from spermatocytes to spermatids appears disorganized with degenerating cells present

homeostasis/metabolism

increased blood urea nitrogen level ( J:144929 )

• by 2 weeks of age

hematopoietic system

anemia ( J:144929 )

embryo

embryo phenotype ( J:144929 )

N • although some Meckel Syndrome Type 3 patients have occipital encephalocele and cerebellar abnormalities, these homozygotes do not

N • although some primary cilium defects are associated with situs inversus, these homozygotes do not show any laterality anomalies

limbs/digits/tail

limbs/digits/tail phenotype ( J:144929 )

N • although some Meckel Syndrome Type 3 patients have polydactyly, these homozygotes do not

liver/biliary system

liver/biliary system phenotype ( J:144929 )

N • although some Meckel Syndrome Type 3 patients have hepatic ductal dysplasia and cysts, these homozygotes do not

cellular

abnormal kidney epithelial cell primary cilium morphology ( J:144929 )

• at birth, the primary cilia on the epithelial cells in cystic tubules appear dysmorphic and vary in length

increased kidney epithelial cell primary cilium length ( J:144929 )

• at P3, some cilia appear elongated

• by P14 and P20, many cilia are significantly longer than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Meckel syndrome		DOID:0050778	OMIM:PS249000	J:144929