Phenotypes Associated with This Genotype

Genotype
MGI:5320595

• Allelic Composition: Ugt1^tm1.1Afmu/Ugt1^tm1.1Afmu
• Genetic Background: involves: 129 * C57BL/6 * SJL

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

mortality/aging

postnatal lethality, complete penetrance ( J:182805 )

• by P11

• mice given phototherapy at P2 show prolonged survival although none survived past P20

behavior/neurological

abnormal suckling behavior ( J:182805 )

• deceased feeding

abnormal motor capabilities/coordination/movement ( J:182805 )

• severe motor impairment detectable by P3

• stimulus-evoked hyperactivity resembling seizures is detected at P7 - P11

athetotic walking movements ( J:182805 )

• at P7 - P11

dystonia ( J:182805 )

• at P7 - P11

ataxia ( J:182805 )

• at P7 - P11

abnormal limb posture ( J:182805 )

• of the rear limbs

abnormal locomotor activation ( J:182805 )

• poor and slow movement

nervous system

increased neuron apoptosis ( J:182805 )

• in the cerebellum at P5

abnormal cerebellum morphology ( J:182805 )

• less well developed at P5

thin external granule cell layer ( J:182805 )

• at P5

abnormal cerebellar layer morphology ( J:182805 )

• abnormal stratification at P5

abnormal cerebellar Purkinje cell layer ( J:182805 )

• very disorganized at P5

abnormal Purkinje cell dendrite morphology ( J:182805 )

• underdeveloped dendritic arbor at P5

decreased Purkinje cell number ( J:182805 )

abnormal cerebellar granule layer morphology ( J:182805 )

• increased depth at P5

abnormal cerebellum fissure morphology ( J:182805 )

• misshapen at P5

• fissures in lobules I, IV, VIa, and IXb are almost absent at P5

homeostasis/metabolism

increased circulating bilirubin level ( J:182805 )

• unconjugated bilirubin levels reach about 42 times higher than controls by P5

• mice given phototherapy at P2 show lower levels of bilirubin

liver/biliary system

abnormal gallbladder morphology ( J:182805 )

• colorless rather than yellowish reflecting the absence of glucuronidated bilirubin

jaundice ( J:182805 )

• develops as early as 36 h after birth

muscle

dystonia ( J:182805 )

• at P7 - P11

cellular

increased neuron apoptosis ( J:182805 )

• in the cerebellum at P5

endocrine/exocrine glands

abnormal gallbladder morphology ( J:182805 )

• colorless rather than yellowish reflecting the absence of glucuronidated bilirubin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Crigler-Najjar syndrome		DOID:3803	OMIM:218800	J:182805