Phenotypes associated with this allele

• Allele Symbol: Ift88^Tg737Rpw
• Allele Name: transgene insertion 737, Richard P Woychik
• Allele ID: MGI:2157527
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ift88^Tg737Rpw/Ift88^Tg737Rpw	C3.FVB-Ift88^Tg737Rpw	MGI:3583451
hm2	Ift88^Tg737Rpw/Ift88^Tg737Rpw	FVB/N-Ift88^Tg737Rpw	MGI:3583450
hm3	Ift88^Tg737Rpw/Ift88^Tg737Rpw	involves: 129/Sv * FVB/N	MGI:3664429
hm4	Ift88^Tg737Rpw/Ift88^Tg737Rpw	involves: C3H * FVB/N	MGI:3583453
hm5	Ift88^Tg737Rpw/Ift88^Tg737Rpw	involves: FVB/N	MGI:3046284
ht6	Ift88^Tg737Rpw/Ift88^tm1Rpw	involves: 129/Sv * FVB/N	MGI:3664430
cx7	Bbs7^tm1Vcs/Bbs7^tm1Vcs Ift88^Tg737Rpw/Ift88^Tg737Rpw	involves: FVB/N	MGI:5315588

Genotype
MGI:3583451

hm1

• Allelic Composition: Ift88^Tg737Rpw/Ift88^Tg737Rpw
• Genetic Background: C3.FVB-Ift88^Tg737Rpw

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

renal/urinary system

kidney cyst ( J:18508 , J:73583 )

• Background Sensitivity: cysts develop at a slower rate on a C3H background compared to an FVB/N background (J:18508)

• proximal tubular cysts are seen at 15-20 days of age with a progressive shift in cyst localization to collecting ducts complete by 70 days of age (J:73583)

• at 20-30 days of age, cysts are about 0.58% of the total kidney area (J:73583)

decreased urine osmolality ( J:73583 )

• Background Sensitivity: on a C3H background urine specific gravity and urine:serum osmolality ratio remain normal for much longer compared to mice on an FVB/N background

liver/biliary system

abnormal bile duct morphology ( J:18508 , J:73583 )

• bilary dysplasia and hyperplasia are seen around the portal triad (J:73583)

liver fibrosis ( J:18508 , J:73583 )

• portal fibrosis (J:18508)

• Background Sensitivity: fibrosis is more severe on an inbred C3H background compared to an FVB/N background (J:73583)

absent oval cells ( J:73583 )

• Background Sensitivity: unlike in mice on an inbred FVB/N, background proliferating oval cells are not seen

abnormal oval cell physiology ( J:18508 )

• Background Sensitivity: the liver lesion is less severe on a C3H background compared to an FVB/N background

endocrine/exocrine glands

abnormal pancreatic duct morphology ( J:73583 )

• pancreatic ductular hyperplasia and dysplasia

• Background Sensitivity: pancreatic lesions develop at a much slower rate compared to mice on an FVB/N background

abnormal bile duct morphology ( J:18508 , J:73583 )

• bilary dysplasia and hyperplasia are seen around the portal triad (J:73583)

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:73583 )

• Background Sensitivity: increase is higher on an FVB/N background compared to a C3H background

increased bile salt level ( J:73583 )

• mild increase in serum bile acid concentrations

• Background Sensitivity: increase is higher on an FVB/N background compared to a C3H background

decreased urine osmolality ( J:73583 )

• Background Sensitivity: on a C3H background urine specific gravity and urine:serum osmolality ratio remain normal for much longer compared to mice on an FVB/N background

limbs/digits/tail

polydactyly ( J:18508 )

• Background Sensitivity: polydactyly is more variable on a C3H background compared to an FVB/N background

digestive/alimentary system

abnormal pancreatic duct morphology ( J:73583 )

• pancreatic ductular hyperplasia and dysplasia

• Background Sensitivity: pancreatic lesions develop at a much slower rate compared to mice on an FVB/N background

growth/size/body

kidney cyst ( J:18508 , J:73583 )

• Background Sensitivity: cysts develop at a slower rate on a C3H background compared to an FVB/N background (J:18508)

• proximal tubular cysts are seen at 15-20 days of age with a progressive shift in cyst localization to collecting ducts complete by 70 days of age (J:73583)

• at 20-30 days of age, cysts are about 0.58% of the total kidney area (J:73583)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:18508 , J:73583

Genotype
MGI:3583450

hm2

• Allelic Composition: Ift88^Tg737Rpw/Ift88^Tg737Rpw
• Genetic Background: FVB/N-Ift88^Tg737Rpw

mortality/aging

postnatal lethality, incomplete penetrance ( J:18508 , J:37149 )

• 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)

cellular

decreased pancreatic primary cilium length ( J:95813 )

• pancreatic cell cilia are reduced in length

decreased pancreatic primary cilium number ( J:95813 )

• pancreatic cell cilia are reduced in number

renal/urinary system

polycystic kidney ( J:18508 , J:73583 )

• 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)

enlarged kidney ( J:18508 )

• kidneys are slightly enlarged and pale

decreased urine osmolality ( J:73583 )

• 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

liver/biliary system

abnormal bile duct morphology ( J:18508 , J:37149 )

• biliary dysplasia (J:18508)

• excess dysplastic bile ductular structures are seen around the in the liver lesion (J:37149)

abnormal liver parenchyma morphology ( J:18508 , 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)

liver fibrosis ( J:18508 , J:37149 )

• portal fibrosis (J:18508)

• little hepatic fibrosis (J:37149)

endocrine/exocrine glands

decreased pancreatic primary cilium length ( J:95813 )

• pancreatic cell cilia are reduced in length

decreased pancreatic primary cilium number ( J:95813 )

• pancreatic cell cilia are reduced in number

abnormal pancreatic acinus morphology ( J:95813 )

• 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

decreased pancreatic acinar cell number ( J:73583 )

• progressive loss of acinar cells, may be secondary to apoptosis

abnormal pancreatic duct morphology ( J:73583 )

• pancreatic ductular hyperplasia and dysplasia along with the loss of acinar cells are seen; however the islets of Langerhans appear normal

abnormal bile duct morphology ( J:18508 , J:37149 )

• biliary dysplasia (J:18508)

• excess dysplastic bile ductular structures are seen around the in the liver lesion (J:37149)

small pancreas ( J:95813 )

• pancreas size is severely reduced at 14 days after birth but not at birth

pancreas cyst ( J:73583 , J:95813 )

• 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)

abnormal pancreas physiology ( J:95813 )

• the activated form of carboxypeptidase is detected in the pancreas unlike in wild-type controls

abnormal pancreas secretion ( J:95813 )

• 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

decreased circulating glucose level ( J:95813 )

• at 14 days of age glucose levels are decreased after fasting compared to fasted wild-type controls

increased circulating alkaline phosphatase level ( J:73583 )

• Background Sensitivity: increase is higher on an FVB/N background compared to a C3H background

impaired glucose tolerance ( J:95813 )

• glucose levels remain elevated longer compared to wild-type mice

increased bile salt level ( J:73583 )

• marked increase in serum bile acid concentrations

• Background Sensitivity: increase is higher on an FVB/N background compared to a C3H background

decreased urine osmolality ( J:73583 )

• 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

limbs/digits/tail

polydactyly ( J:18508 )

• 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

pancreas cyst ( J:73583 , J:95813 )

• 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)

polycystic kidney ( J:18508 , J:73583 )

• 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)

postnatal growth retardation ( J:18508 )

• severe growth retardation

enlarged kidney ( J:18508 )

• kidneys are slightly enlarged and pale

digestive/alimentary system

abnormal pancreatic acinus morphology ( J:95813 )

• 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

decreased pancreatic acinar cell number ( J:73583 )

• progressive loss of acinar cells, may be secondary to apoptosis

abnormal pancreatic duct morphology ( J:73583 )

• pancreatic ductular hyperplasia and dysplasia along with the loss of acinar cells are seen; however the islets of Langerhans appear normal

integument

disheveled coat ( J:18508 )

• homozygotes have scruffy fur

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:18508 , J:37149 , J:73583 , J:95813

Genotype
MGI:3664429

hm3

• Allelic Composition: Ift88^Tg737Rpw/Ift88^Tg737Rpw
• Genetic Background: involves: 129/Sv * FVB/N

renal/urinary system

kidney cyst ( J:62025 )

• collecting duct cysts

dilated proximal convoluted tubule ( J:62025 )

• dilation of the proximal tubules

endocrine/exocrine glands

pancreatic acinar cell atrophy ( J:62025 )

• acinar cell atrophy

abnormal pancreatic duct morphology ( J:62025 )

• ductal hyperplasia

abnormal bile duct morphology ( J:62025 )

• biliary and bile duct hyperplasia

limbs/digits/tail

polydactyly ( J:62025 )

• preaxial polydactyly of both the fore- and hindlimbs

liver/biliary system

abnormal bile duct morphology ( J:62025 )

• biliary and bile duct hyperplasia

digestive/alimentary system

pancreatic acinar cell atrophy ( J:62025 )

• acinar cell atrophy

abnormal pancreatic duct morphology ( J:62025 )

• ductal hyperplasia

growth/size/body

kidney cyst ( J:62025 )

• collecting duct cysts

Genotype
MGI:3583453

hm4

• Allelic Composition: Ift88^Tg737Rpw/Ift88^Tg737Rpw
• Genetic Background: involves: C3H * FVB/N

endocrine/exocrine glands

abnormal pancreas morphology ( J:73583 )

• Background Sensitivity: pancreatic lesions have characteristics of both parent strains; however none of the F1 and only 1 F2 had visible pancreatic cysts at the time of death

liver/biliary system

abnormal liver morphology ( J:73583 )

• Background Sensitivity: the liver lesion is more variable compared to mice on inbred FVB/N or C3H backgrounds

renal/urinary system

kidney cyst ( J:73583 )

• Background Sensitivity: cyst development is intermediate compared to mice on inbred FVB/N (more severe) and C3H (less severe) backgrounds

• at 20-30 days of age, cysts are between 6.92% and 3.92% of the total kidney area

growth/size/body

kidney cyst ( J:73583 )

• Background Sensitivity: cyst development is intermediate compared to mice on inbred FVB/N (more severe) and C3H (less severe) backgrounds

• at 20-30 days of age, cysts are between 6.92% and 3.92% of the total kidney area

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:73583

Genotype
MGI:3046284

hm5

• Allelic Composition: Ift88^Tg737Rpw/Ift88^Tg737Rpw
• Genetic Background: involves: FVB/N

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:65500 )

• 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

abnormal pancreas morphology ( J:90990 )

• 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

decreased pancreatic primary cilium length ( J:90990 )

• the remaining pancreatic cilia are shortened at E15.5, E18.5 and 4 days of age

decreased pancreatic primary cilium number ( J:90990 )

• pancreatic primary cilia are almost absent

abnormal pancreatic acinar cell morphology ( J:90990 )

• progressive loss of acinar cells from birth to 17 days

abnormal pancreatic duct morphology ( J:90990 )

• relative to acinar and beta-cells a 3-fold increase in ductal cell proliferation is seen

small pancreas ( J:90990 )

• loss of acinar cells results in severe reduction in pancreatic mass

pancreas cyst ( J:90990 )

• by 2 weeks of age large pancreatic cyst is seen and at E18.5, intracinar ducts are slightly dilated

abnormal pancreas secretion ( J:90990 )

• shortly after birth amylase expression is increased; however glucose tolerance is normal

limbs/digits/tail

abnormal limb bud morphology ( J:83305 )

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

abnormal carpal bone morphology ( J:83305 )

• carpals are fused or malformed in many mice

abnormal phalanx morphology ( J:83305 )

• phalange 2 of digits II and V is severely reduced in length or absent

polydactyly ( J:83305 )

• 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

abnormal tarsal bone morphology ( J:83305 )

• tarsals are fused or malformed in many mice

craniofacial

abnormal coronal suture morphology ( J:83305 )

• the parietal and frontal sutures are disorganized and fail to fuse

supernumerary molars ( J:83305 )

• 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

cleft secondary palate ( J:83305 )

• minor clefting of the palatine process

hearing/vestibular/ear

abnormal inner ear morphology ( J:83305 )

• the opening in the perioctic capsule is absent

skeleton

abnormal coronal suture morphology ( J:83305 )

• the parietal and frontal sutures are disorganized and fail to fuse

supernumerary molars ( J:83305 )

• 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

abnormal carpal bone morphology ( J:83305 )

• carpals are fused or malformed in many mice

abnormal tarsal bone morphology ( J:83305 )

• tarsals are fused or malformed in many mice

abnormal long bone morphology ( J:83305 )

• the tibia and fibula fail to fuse

abnormal phalanx morphology ( J:83305 )

• phalange 2 of digits II and V is severely reduced in length or absent

digestive/alimentary system

cleft secondary palate ( J:83305 )

• minor clefting of the palatine process

abnormal pancreatic acinar cell morphology ( J:90990 )

• progressive loss of acinar cells from birth to 17 days

abnormal pancreatic duct morphology ( J:90990 )

• relative to acinar and beta-cells a 3-fold increase in ductal cell proliferation is seen

embryo

abnormal limb bud morphology ( J:83305 )

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

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:65500 )

• 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)

decreased pancreatic primary cilium length ( J:90990 )

• the remaining pancreatic cilia are shortened at E15.5, E18.5 and 4 days of age

decreased pancreatic primary cilium number ( J:90990 )

• pancreatic primary cilia are almost absent

growth/size/body

supernumerary molars ( J:83305 )

• 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

cleft secondary palate ( J:83305 )

• minor clefting of the palatine process

pancreas cyst ( J:90990 )

• by 2 weeks of age large pancreatic cyst is seen and at E18.5, intracinar ducts are slightly dilated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:65500 , J:90990

Genotype
MGI:3664430

ht6

• Allelic Composition: Ift88^Tg737Rpw/Ift88^tm1Rpw
• Genetic Background: involves: 129/Sv * FVB/N

renal/urinary system

kidney cyst ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes with proximal tubule dilations and collecting duct cysts

dilated proximal convoluted tubule ( J:62025 )

• dilation of the proximal tubules

endocrine/exocrine glands

pancreatic acinar cell atrophy ( J:62025 )

• acinar cell atrophy

abnormal pancreatic duct morphology ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes

• ductal hyperplasia

abnormal bile duct morphology ( J:62025 )

• biliary and bile duct hyperplasia

limbs/digits/tail

preaxial polydactyly ( J:62025 )

• preaxial polydactyly of both the fore- and hindlimbs

liver/biliary system

abnormal bile duct morphology ( J:62025 )

• biliary and bile duct hyperplasia

abnormal liver morphology ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes

digestive/alimentary system

pancreatic acinar cell atrophy ( J:62025 )

• acinar cell atrophy

abnormal pancreatic duct morphology ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes

• ductal hyperplasia

growth/size/body

kidney cyst ( J:62025 )

• identical to phenotype in Ift88^Tg737Rpw homozygotes with proximal tubule dilations and collecting duct cysts

Genotype
MGI:5315588

cx7

• Allelic Composition: Bbs7^tm1Vcs/Bbs7^tm1Vcs; Ift88^Tg737Rpw/Ift88^Tg737Rpw
• Genetic Background: involves: FVB/N

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:181886 )

• mice do not survive beyond E12.5

limbs/digits/tail

abnormal limb development ( J:181886 )

• lack of calcification at E12.5

broad limb buds ( J:181886 )

• broad at E12.5 relative to E11.5 wild-type limb buds, suggesting polydactyly

delayed limb development ( J:181886 )

• delayed at E11.5 and E12.5

embryo

broad limb buds ( J:181886 )

• broad at E12.5 relative to E11.5 wild-type limb buds, suggesting polydactyly

vision/eye

anophthalmia ( J:181886 )

• absent eyes at E11.5 to E13.5

cardiovascular system

pericardial edema ( J:181886 )

• at E11.5 to E13.5

craniofacial

cleft palate ( J:181886 )

• at E11.5 to E13.5

nervous system

exencephaly ( J:181886 )

• at E11.5 to E13.5

homeostasis/metabolism

pericardial edema ( J:181886 )

• at E11.5 to E13.5

digestive/alimentary system

cleft palate ( J:181886 )

• at E11.5 to E13.5

growth/size/body

cleft palate ( J:181886 )

• at E11.5 to E13.5