Mouse Genome Informatics
hm
    Ift88Tg737Rpw/Ift88Tg737Rpw
FVB/N-Ift88Tg737Rpw
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most die in the first week of life with a few surviving several months (J:18508)
• Background Sensitivity: mice live longer on a C3H background compared to an FVB/N background (J:18508)
• most die before weaning (J:37149)

renal/urinary system
• low urine specific gravity and urine:serum osmolality ratio
• Background Sensitivity: on a C3H background urine specific gravity and urine:serum osmolality ratio remain normal for much longer
• kidneys are slightly enlarged and pale
• bilateral polycyctic kidneys with concurrent destruction of the surrounding parenchyma (J:18508)
• cycts are initially located in the proximal tubules in newborns with a progressive shift in location to the collecting ducts with age (J:18508)
• Background Sensitivity: cysts develop at a slower rate on a C3H background compared to an FVB/N background (J:18508)
• at 20-30 days of age, cysts are about 18% of the total kidney area (J:73583)
• all kidney cysts are found in the collecting ducts by 10-14 days of age (J:73583)

liver/biliary system
• biliary dysplasia (J:18508)
• excess dysplastic bile ductular structures are seen around the in the liver lesion (J:37149)
• portal fibrosis (J:18508)
• little hepatic fibrosis (J:37149)
• proliferation of epithelial cells arising from the portal triad forming primitive, dysplatic and tortuous ductules that expand into the portal and periportal area and can disrupt the limiting plate (J:18508)
• proliferating cells are poorly differentiated and resemble oval cells (J:18508)
• Background Sensitivity: the liver lesion is less severe on a C3H background compared to an FVB/N background (J:18508)
• at 5 days of age, liver lesions center on the portal triad and consist of excess bile ductular structures and proliferating nonparenchymal epithelial cells (J:37149)
• at 10 days of age, proliferating cells expand the portal triad invade the periportal area (J:37149)
• in mice that survive past weaning (55 of 497), proliferating cells can disrupt the limiting plate and invade the hepatic parenchyma (J:37149)

endocrine/exocrine glands
• biliary dysplasia (J:18508)
• excess dysplastic bile ductular structures are seen around the in the liver lesion (J:37149)
• pancreatic cell cilia are reduced in length and number
• at 2 days of age, acini appear abnormal, become disorganized and are lost by 21 days of age; however islets appear normal in number and size
• at 1 day of age acini have zymogen granules with a halo appearance at 1 day of age and at 5 days of age show extensive vacuolization, reduced size of the zymogen granules and are lost through apoptosis
• progressive loss of acinar cells, may be secondary to apoptosis
• pancreatic ductular hyperplasia and dysplasia along with the loss of acinar cells are seen; however the islets of Langerhans appear normal
• pancreas size is severely reduced at 14 days after birth but not at birth
• proliferating ductules develop into cysts that can be seen microscopically at 15 - 20 days of age (J:73583)
• at E17.5 intralobular and intercalated ducts are dilated and this dilation becomes more severe with age (J:95813)
• the activated form of carboxypeptidase is detected in the pancreas unlike in wild-type controls
• in newborns, circulating amylase levels are increased without any change in creatinine levels; however, by 7 days of age pancreatic amylase levels are markedly reduced

homeostasis/metabolism
• at 14 days of age glucose levels are decreased after fasting compared to fasted wild-type controls
• Background Sensitivity: increase is higher on an FVB/N background compared to a C3H background
• glucose levels remain elevated longer compared to wild-type mice
• marked increase in serum bile acid concentrations
• Background Sensitivity: increase is higher on an FVB/N background compared to a C3H background
• low urine specific gravity and urine:serum osmolality ratio
• Background Sensitivity: on a C3H background urine specific gravity and urine:serum osmolality ratio remain normal for much longer
• portal fibrosis (J:18508)
• little hepatic fibrosis (J:37149)

limbs/digits/tail
• preaxial polydactyly occurs on all limbs
• Background Sensitivity: polydactyly is more variable on a C3H background compared to an FVB/N background

growth/size/body
• severe growth retardation

digestive/alimentary system
• at 2 days of age, acini appear abnormal, become disorganized and are lost by 21 days of age; however islets appear normal in number and size
• at 1 day of age acini have zymogen granules with a halo appearance at 1 day of age and at 5 days of age show extensive vacuolization, reduced size of the zymogen granules and are lost through apoptosis
• progressive loss of acinar cells, may be secondary to apoptosis
• pancreatic ductular hyperplasia and dysplasia along with the loss of acinar cells are seen; however the islets of Langerhans appear normal

integument
• homozygotes have scruffy fur

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:18508 , J:37149 , J:73583 , J:95813