Phenotypes Associated with This Genotype

Genotype
MGI:4847969

• Allelic Composition: Lrp2^m267Asp/Lrp2^m267Asp
• Genetic Background: involves: C57BL/6J * FVB/N

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

behavior/neurological

impaired coordination ( J:166387 )

• performance on the rotarod task is indistinguishable from controls when fed a selenium-adequate diet, however when mutants are fed a low-selenium diet for 4 weeks after weaning, mice exhibit impaired movement coordination on the rotarod

homeostasis/metabolism

abnormal circulating mineral level ( J:166387 )

• serum selenium levels are reduced irrespective of the food selenium content

• levels of serum selenoprotein P are reduced

abnormal selenium level ( J:166387 )

• urinary selenium content is increased while serum selenium levels are reduced

• with adequate dietary selenium intake, renal selenium content is not significantly changed in mutants, however upon dietary selenium restriction, renal selenium content is significantly reduced in mutants

• selenium levels in liver and brain are reduced

increased urine protein level ( J:166387 )

• selenoprotein P (SePP) is present in urine of mutants but not wild-type mice

increased urine selenium level ( J:166387 )

• urinary selenium content is increased

decreased glutathione peroxidase activity ( J:166387 )

• activity of the selenoenzyme glutathione peroxidase (GPx) is reduced in the plasma, in the brain, kidney, and liver

nervous system

exencephaly ( J:166387 )

• mild exencephaly

renal/urinary system

increased urine protein level ( J:166387 )

• selenoprotein P (SePP) is present in urine of mutants but not wild-type mice

increased urine selenium level ( J:166387 )

• urinary selenium content is increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Donnai-Barrow syndrome		DOID:0090144	OMIM:222448	J:166387