Phenotypes Associated with This Genotype

Genotype
MGI:8221223

• Allelic Composition: Pkhd1^tm2Ggg/Pkhd1^tm2Ggg
• Genetic Background: involves: 129 * C57BL/6 * FVB

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

craniofacial

misaligned incisors ( J:348336 )

malocclusion ( J:348336 )

• approximately 80% of mice develop malocclusion due to misaligned incisors

• however, tooth number and other facial features are normal

abnormal temporomandibular joint morphology ( J:348336 )

• temporomandibular joint condyles have reduced subchondral bone volume/tissue volume

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:348336 )

N • pancreatic cysts and ascites are uncommon

abnormal bile duct development ( J:348336 )

• livers appear to form major branches of the biliary system with diminished density of secondary branches

abnormal cholangiocyte morphology ( J:348336 )

• newborn livers have an increased number of biliary cells but are macroscopically normal

dilated bile duct ( J:348336 )

• mice commonly exhibit bile duct dilatation

growth/size/body

misaligned incisors ( J:348336 )

malocclusion ( J:348336 )

• approximately 80% of mice develop malocclusion due to misaligned incisors

• however, tooth number and other facial features are normal

liver cyst ( J:348336 )

• macroscopic liver cysts are present by 4 weeks of age and liver disease worsens with age

enlarged kidney ( J:348336 )

♀ • females have slightly larger kidneys

immune system

abnormal spleen physiology ( J:348336 )

• mice commonly exhibit hypersplenism

liver/biliary system

abnormal bile duct development ( J:348336 )

• livers appear to form major branches of the biliary system with diminished density of secondary branches

abnormal cholangiocyte morphology ( J:348336 )

• newborn livers have an increased number of biliary cells but are macroscopically normal

dilated bile duct ( J:348336 )

• mice commonly exhibit bile duct dilatation

liver cyst ( J:348336 )

• macroscopic liver cysts are present by 4 weeks of age and liver disease worsens with age

renal/urinary system

renal/urinary system phenotype ( J:348336 )

N • mice exhibit normal kidney tubules and glomeruli, with no evidence of dilatation or cyst formation in collecting ducts at various ages from birth to 15 months, with normal tubular diameter and cell number in tubular cross sections

enlarged kidney ( J:348336 )

♀ • females have slightly larger kidneys

reproductive system

reduced male fertility ( J:348336 )

• small litter sizes are seen when using male homozygotes for breeding

• homozygous sperm fertilize eggs at a lower in vitro fertilization rate than controls

skeleton

misaligned incisors ( J:348336 )

malocclusion ( J:348336 )

• approximately 80% of mice develop malocclusion due to misaligned incisors

• however, tooth number and other facial features are normal

abnormal temporomandibular joint morphology ( J:348336 )

• temporomandibular joint condyles have reduced subchondral bone volume/tissue volume

vision/eye

cornea opacity ( J:348336 )

• all mice develop corneal opacities in one or both eyes detectable within the first 3-4 weeks of life and progressively worsens with age, invariably bilateral and sometimes results in corneal ulceration

cornea ulcer ( J:348336 )

• seen sometimes

abnormal eye size ( J:348336 )

• corneal opacities are often accompanied by changes in eye globe size

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	autosomal recessive polycystic kidney disease	DOID:0110861		J:348336