Phenotypes associated with this allele

• Allele Symbol: Atp8a2^tm1Rsmy
• Allele Name: targeted mutation 1, Robert S Molday
• Allele ID: MGI:5588356
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp8a2^tm1Rsmy/Atp8a2^tm1Rsmy	involves: 129S6/SvEvTac * C57BL/6NTac	MGI:5588363

Genotype
MGI:5588363

hm1

• Allelic Composition: Atp8a2^tm1Rsmy/Atp8a2^tm1Rsmy
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

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

mortality/aging

premature death ( J:211318 )

• mean survival is 1 to 2 months

vision/eye

vision/eye phenotype ( J:211318 )

N • outer segment photoreceptors exhibit normal morphology

decreased retina photoreceptor cell number ( J:211318 )

• at P23

short photoreceptor outer segment ( J:211318 )

• at P23

disorganized photoreceptor outer segment ( J:211318 )

retina photoreceptor degeneration ( J:211318 )

abnormal retina pigment epithelium morphology ( J:211318 )

• some intracellular vesicles

thin retina outer nuclear layer ( J:211318 )

• at P23

abnormal cone electrophysiology ( J:211318 )

• at P30

abnormal rod electrophysiology ( J:211318 )

• reduced a- and b-wave amplitudes at P30

behavior/neurological

limb grasping ( J:211318 )

abnormal voluntary movement ( J:211318 )

• labored movement

growth/size/body

decreased body size ( J:211318 )

nervous system

decreased retina photoreceptor cell number ( J:211318 )

• at P23

short photoreceptor outer segment ( J:211318 )

• at P23

disorganized photoreceptor outer segment ( J:211318 )

retina photoreceptor degeneration ( J:211318 )

pigmentation

abnormal retina pigment epithelium morphology ( J:211318 )

• some intracellular vesicles