Phenotypes Associated with This Genotype

Genotype
MGI:4888512

• Allelic Composition: Btd^tm1Bwol/Btd^tm1Bwol
• Genetic Background: B6.Cg-Btd^tm1Bwol

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

behavior/neurological

abnormal behavior ( J:168391 )

• mice fed a biotin-deprived diet exhibit behavioral and neurological symptoms unlike similarly treated wild-type mice

lethargy ( J:168391 )

• by day 14 in mice fed a biotin-depleted diet

tremors ( J:168391 )

• by day 14 in mice fed a biotin-depleted diet

• however, biotin-treatment rescues tremors

weakness ( J:168391 )

• by day 14, mice fed a biotin-depleted diet exhibit tail and limb weakness unlike similarly treated wild-type mice

• by day 16, mice fed a biotin-depleted diet exhibit limb weakness to paralysis unlike similarly treated wild-type mice

hunched posture ( J:168391 )

• by day 14 in mice fed a biotin-depleted diet

abnormal gait ( J:168391 )

• by day 14 in mice fed a biotin-depleted diet

forelimb paralysis ( J:168391 )

• by day 16 in mice fed a biotin-depleted diet

hindlimb paralysis ( J:168391 )

• by day 16 in mice fed a biotin-depleted diet

integument

abnormal coat/hair pigmentation ( J:168391 )

• by day 14, mice fed a biotin-depleted diet exhibit whitening of the fur around the eyes and subsequent graying of the fur over the entire body unlike similarly treated wild-type mice

alopecia ( J:168391 )

• in mice fed a biotin-depleted diet

• however, treatment with biotin restores coat

homeostasis/metabolism

increased circulating ammonia level ( J:168391 )

• in mice fed a biotin-depleted diet

abnormal urine homeostasis ( J:168391 )

• mice fed a biotin-depleted diet exhibit increased urinary biotin and biotin metabolites and 3-hydroxyisovaleric acid (20-fold) compared with similarly treated wild-type mice

growth/size/body

weight loss ( J:168391 )

• in mice fed a biotin-depleted diet

• however, biotin treatment reverses weight loss

skeleton

decreased bone mass ( J:168391 )

• in mice fed a biotin-depleted diet

renal/urinary system

abnormal urine homeostasis ( J:168391 )

• mice fed a biotin-depleted diet exhibit increased urinary biotin and biotin metabolites and 3-hydroxyisovaleric acid (20-fold) compared with similarly treated wild-type mice

muscle

hypotonia ( J:168391 )

• in mice fed a biotin-depleted diet

vision/eye

abnormal eye physiology ( J:168391 )

• mice fed a biotin-depleted diet exhibit a difficult time keeping eyelids open unlike similarly treated wild-type mice

pigmentation

abnormal coat/hair pigmentation ( J:168391 )

• by day 14, mice fed a biotin-depleted diet exhibit whitening of the fur around the eyes and subsequent graying of the fur over the entire body unlike similarly treated wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
biotinidase deficiency		DOID:856	OMIM:253260	J:168391