Phenotypes Associated with This Genotype

Genotype
MGI:3580456

• Allelic Composition: Prkdc^scid/Prkdc^scid; Idua^tm1Clk/Idua^tm1Clk
• Genetic Background: NOD.Cg-Prkdc^scid Idua^tm1Clk/J

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

reproductive system

female infertility ( J:139626 )

♀ • matings between homozygote females and heterozygote males are unsuccessful

behavior/neurological

abnormal motor learning ( J:139626 )

• mice trained on a rotating rod have decreased times of latency in subsequent tests compared to controls

• males have more deficient motor learning than females

• for females, there was some improvement in times of latency at all speeds though never to the degree seen for controls

• training failed to improve time of latency for males at the highest speed tested

impaired coordination ( J:139626 )

• mice have decreased times of latency in rotarod tests

• males have worse impairment than females

pup cannibalization ( J:139626 )

♀ • mothers often cannibalize their offspring

craniofacial

abnormal zygomatic bone morphology ( J:139626 )

• mice have thickening of the zygomatic bone

short snout ( J:139626 )

• mice have a short snout that is more evident in females

broad head ( J:139626 )

• mice have broad head that is more evident in females

small ears ( J:139626 )

• mice have small ears that is more evident in females

hearing/vestibular/ear

small ears ( J:139626 )

• mice have small ears that is more evident in females

homeostasis/metabolism

abnormal homeostasis ( J:139626 )

• tissue levels of glycosaminoglycans are extremely high throughout tissues with highest levels in the liver followed by kidney, lung, spleen, heart and brain

increased urine glycosaminoglycan level ( J:139626 )

• urinary excretion of glycosaminoglycans is 6.5-fold higher than in controls

nervous system

abnormal brain morphology ( J:139626 )

• ganglioside accumulations are observed

abnormal brainstem morphology ( J:139626 )

• high ganglioside accumulations are observed

abnormal striatum morphology ( J:139626 )

• high ganglioside accumulations are observed

abnormal hippocampus morphology ( J:139626 )

• ganglioside accumulations are observed

abnormal cerebellum morphology ( J:139626 )

• ganglioside accumulations are observed

abnormal cerebellar cortex morphology ( J:139626 )

• ganglioside accumulations are observed

renal/urinary system

increased urine glycosaminoglycan level ( J:139626 )

• urinary excretion of glycosaminoglycans is 6.5-fold higher than in controls

skeleton

abnormal zygomatic bone morphology ( J:139626 )

• mice have thickening of the zygomatic bone

vision/eye

enophthalmos ( J:139626 )

• mice have a short snout that is more evident in females

integument

rough coat ( J:139626 )

• mice have a rough coat

growth/size/body

short snout ( J:139626 )

• mice have a short snout that is more evident in females

broad head ( J:139626 )

• mice have broad head that is more evident in females

small ears ( J:139626 )

• mice have small ears that is more evident in females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis I		DOID:12802		J:139626