Phenotypes Associated with This Genotype

Genotype
MGI:5487655

• Allelic Composition: Abhd12^tm1Crv/Abhd12^tm1Crv
• Genetic Background: involves: C57BL/6

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

Age-dependent increase in microglial activation in Abhd12^tm1Crv/Abhd12^tm1Crv brain

behavior/neurological

absent startle reflex ( J:193716 )

• at 17 to 18 months

decreased startle reflex ( J:193716 )

• blunted at 11 to 12 months

ataxia ( J:193716 )

impaired coordination ( J:193716 )

• mild at 17 to 18 months in the accelerating rotarod and hanging wire test

• however, young mice exhibit normal coordination

hyperactivity ( J:193716 )

• modest in young, but not old, mice

hearing/vestibular/ear

abnormal auditory brainstem response waveform shape ( J:193716 )

• at 9 to 10 months, mice exhibit delayed absolute latencies of waves IV, V and VII and interpeak latencies of waves I to IV compared with wild-type mice

• however, brainstem auditory evoked potential remains intact

impaired hearing ( J:193716 )

homeostasis/metabolism

abnormal phospholipid level ( J:193716 )

• elevated lysophosphatidylserine lipids in the brain at 2 to 6 months

decreased lipoprotein lipase activity ( J:193716 )

• mice exhibit reduced brain lysophosphatidylserine lipase compared with wild-type mice

nervous system

microgliosis ( J:193716 )

• at 12 months in the cerebellum

• at 18 months

muscle

muscle weakness ( J:193716 )

• indicated by a decreased latency to fall at 17 to 18 months in the hanging wire test

vision/eye

vision/eye phenotype ( J:193716 )

N • mice exhibit normal ocular structure and function

immune system

microgliosis ( J:193716 )

• at 12 months in the cerebellum

• at 18 months

hematopoietic system

microgliosis ( J:193716 )

• at 12 months in the cerebellum

• at 18 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
PHARC syndrome		DOID:0080181	OMIM:612674	J:193716