Phenotypes associated with this allele

• Allele Symbol: Lrp2^m267Asp
• Allele Name: mutation 267, Andrew S Peterson
• Allele ID: MGI:3799273
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lrp2^m267Asp/Lrp2^m267Asp	involves: C57BL/6J * FVB/N	MGI:4847969
cx2	Lrp2^m267Asp/Lrp2^m267Asp Tg(Rr291-lacZ)#Mekk/0	involves: C57BL/6J * FVB/N	MGI:3802503

Genotype
MGI:4847969

hm1

• 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

Genotype
MGI:3802503

cx2

• Allelic Composition: Lrp2^m267Asp/Lrp2^m267Asp; Tg(Rr291-lacZ)#Mekk/0
• Genetic Background: involves: C57BL/6J * FVB/N

nervous system

choroid plexus hyperplasia ( J:136795 )

• in the third ventricle at E14.5

abnormal diencephalon morphology ( J:136795 )

• at E17.5, the dorsal diencephalons is abnormal

abnormal cerebral cortex morphology ( J:136795 )

• at E14.5, the cortex is enlarged in the rostrocaudal axis and abnormally shaped

abnormal olfactory bulb morphology ( J:136795 )

• at E17.5