Phenotypes Associated with This Genotype

Genotype
MGI:6682080

• Allelic Composition: Prkar1a^tm1.1Geno/Prkar1a⁺
• Genetic Background: involves: C57BL/6J

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

reproductive system

female infertility ( J:303060 )

• no litters are obtained when heterozygous females are bred with either wild-type mice or heterozygous males

growth/size/body

short snout ( J:303060 )

• mice exhibit slightly shorter and blunt snouts

decreased body length ( J:303060 )

postnatal growth retardation ( J:303060 )

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:303060 )

• plasma parathyroid hormone levels are increased

• however, mice exhibit normal thyroid stimulating hormone levels and normal plasma calcium and phosphorus concentrations

abnormal urine homeostasis ( J:303060 )

• basal urinary cAMP levels are increased

• however, urine/calcium/creatinine clearance ratio and urinary phosphorus normalized by urinary creatinine are normal in males

skeleton

abnormal craniofacial bone morphology ( J:303060 )

• shorter cranial and skull bone lengths

abnormal long bone diaphysis morphology ( J:303060 )

• shortening of the diaphysis of endochondral bone at P4

abnormal long bone metaphysis morphology ( J:303060 )

• shortening of the metaphysis of endochondral bone at P4

decreased length of long bones ( J:303060 )

decreased bone mineral density ( J:303060 )

• skeletal bone mineral density is decreased at P4

decreased bone volume ( J:303060 )

• bone volume and bone surface are decreased

abnormal trabecular bone morphology ( J:303060 )

• tibia is smaller and appears to have reduced formation of primary spongiosa and trabecular bone, suggesting a defect in bone mineralization

abnormal skeleton development ( J:303060 )

• mice exhibit peripheral acrodysostosis affecting the endochondral skeleton as indicated by short stature, short tail, and short forelimbs and hindlimbs

• however, joint formation is normal

abnormal long bone epiphyseal plate morphology ( J:303060 )

• growth plate shows more diffuse and columnar PCNA+ cells which are also present in the zone in proximity of the cartilage/bone junction

• the number of PCNA+ cells per prehypertrophic/hypertrophic chondrocyte column is increased

abnormal long bone epiphyseal plate proliferative zone ( J:303060 )

• increase in the height of the columnar proliferative prehypertrophic chondrocyte layer

decreased width of hypertrophic chondrocyte zone ( J:303060 )

• decrease in the height of the hypertrophic chondrocyte layer

chondrodystrophy ( J:303060 )

delayed endochondral bone ossification ( J:303060 )

• delay in mineralization of the cartilage and epiphyseal secondary ossification centers is seen in forelimb and hindlimb bones indicating a delay in endochondral bone development

craniofacial

abnormal craniofacial morphology ( J:303060 )

• facial dysostosis as indicated by shorter cranial and skull bone lengths and foramen magnum diameters

abnormal craniofacial bone morphology ( J:303060 )

• shorter cranial and skull bone lengths

short snout ( J:303060 )

• mice exhibit slightly shorter and blunt snouts

limbs/digits/tail

brachydactyly ( J:303060 )

• mice exhibit shorter digits affecting both forelimbs and hindlimbs

short limbs ( J:303060 )

• mice exhibit shorter forelimbs and hindlimbs

short tail ( J:303060 )

renal/urinary system

abnormal urine homeostasis ( J:303060 )

• basal urinary cAMP levels are increased

• however, urine/calcium/creatinine clearance ratio and urinary phosphorus normalized by urinary creatinine are normal in males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrodysostosis		DOID:14669	OMIM:101800 OMIM:614613	J:303060