Mouse Genome Informatics
hm
    Ift88Tg737Rpw/Ift88Tg737Rpw
involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
renal/urinary system
• in tubules distal to the proximal tubules, cilia are shorter compared to wild-type cells (1.0+/-0.6 and 1.3+/-0.6 compared to 3.1+/-1.4 and 3.5+/-1.7 at 4 and 7 days of age, respectively)

endocrine/exocrine glands
• increased dilation of duct-like structures and pancreatic lobules are separated by increased interstitial space as well as increased number of tubular complexes; however the islets of Langerhans are morphologically normal and not reduced in number
• primary cilia are almost absent and the remaining cilia are shortened at E15.5, E18.5 and 4 days of age
• progressive loss of acinar cells from birth to 17 days
• relative to acinar and beta-cells a 3-fold increase in ductal cell proliferation is seen
• loss of acinar cells results in severe reduction in pancreatic mass
• by 2 weeks of age large pancreatic cyst is seen and at E18.5, intracinar ducts are slightly dilated
• shortly after birth amylase expression is increased; however glucose tolerance is normal

limbs/digits/tail
• at E12.5, minor expansion of the limb bud is seen mainly on the anterior side
• phalange 2 of digits II and V is severely reduced in length or absent
• in the forelimbs polydactyly is often seen as a fusion with digit I and in the hindlimbs polydactyly is a complete duplication with both phalanges resembling digit I
• tarsals are fused or malformed in many mice
• carpals are fused or malformed in many mice

craniofacial
• the parietal and frontal sutures are disorganized and fail to fuse
• minor clefting of the palatine process
• mice have 4 rather than 3 molars on both the upper and lower jaws with the extra molar composed of a single cuspid and rostral to what is normally the first molar
• mice have 4 rather than 3 molars on both the upper and lower jaws with the extra molar composed of a single cuspid and rostral to what is normally the first molar

hearing/vestibular/ear
• the opening in the perioctic capsule is absent

skeleton
• the parietal and frontal sutures are disorganized and fail to fuse
• tarsals are fused or malformed in many mice
• carpals are fused or malformed in many mice
• the tibia and fibula fail to fuse
• phalange 2 of digits II and V is severely reduced in length or absent

digestive/alimentary system
• minor clefting of the palatine process
• progressive loss of acinar cells from birth to 17 days
• relative to acinar and beta-cells a 3-fold increase in ductal cell proliferation is seen

embryogenesis
• at E12.5, minor expansion of the limb bud is seen mainly on the anterior side

cellular
• in tubules distal to the proximal tubules, cilia are shorter compared to wild-type cells (1.0+/-0.6 and 1.3+/-0.6 compared to 3.1+/-1.4 and 3.5+/-1.7 at 4 and 7 days of age, respectively)

growth/size
• minor clefting of the palatine process
• mice have 4 rather than 3 molars on both the upper and lower jaws with the extra molar composed of a single cuspid and rostral to what is normally the first molar
• mice have 4 rather than 3 molars on both the upper and lower jaws with the extra molar composed of a single cuspid and rostral to what is normally the first molar

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:65500 , J:90990