Phenotypes associated with this allele

• Allele Symbol: Tmem135^fun025
• Allele Name: fundus mutant 025
• Allele ID: MGI:5811600
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmem135^fun025/Tmem135^fun025	C57BL/6J-Tmem135^fun025	MGI:6368811
ht2	Tmem135^em1Aike/Tmem135^fun025	C57BL/6J-Tmem135^em1Aike/Tmem135^fun025	MGI:6368814

Genotype
MGI:6368811

hm1

• Allelic Composition: Tmem135^fun025/Tmem135^fun025
• Genetic Background: C57BL/6J-Tmem135^fun025

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

vision/eye

abnormal retina morphology ( J:237184 )

• early onset, progressive, and age-associated

abnormal retina bipolar cell morphology ( J:237184 )

• ectopically localized presynaptic terminals and abnormal extensions of dendrites into the outer nuclear layers

• increased ectopic synapses in the peripheral retina at 2 months of age and in the central retina at 7 months of age

retina photoreceptor degeneration ( J:237184 )

retina pigment epithelium hyperplasia ( J:237184 )

• by 7 months

thin retina outer nuclear layer ( J:237184 )

• beginning at 2 months and progressing with age

retina gliosis ( J:237184 )

• in the peripheral retina by 2 months

• increased under hypoxic conditions

abnormal cone electrophysiology ( J:237184 )

• modest reduction of b-wave at 7 months of age

abnormal rod electrophysiology ( J:237184 )

• significant reduced a-wave and b-waves at 7 months of age

cellular

abnormal mitochondrial morphology ( J:237184 )

• over-fused and elongated mitochondrial networks in mouse embryonic fibroblasts

• enlarged mitochondria in retinal pigmented epithelium and photoreceptor cells

decreased mitochondrial number ( J:237184 )

• in mouse embryonic fibroblasts

increased mitochondrial size ( J:237184 )

• in mouse embryonic fibroblasts

abnormal mitochondrial physiology ( J:237184 )

• reduced basal oxygen consumption rate and ATP production in mouse embryonic fibroblasts

abnormal respiratory electron transport chain ( J:237184 )

• decreased maximal respiration and spare respiration capacity

decreased mitochondrial fission ( J:237184 )

• in mouse embryonic fibroblasts

oxidative stress ( J:237184 )

• in mouse embryonic fibroblasts

homeostasis/metabolism

increased susceptibility to injury ( J:237184 )

• under hypoxic conditions, mice exhibit increased cell death in the retina compared with wild-type mice

pigmentation

retina pigment epithelium hyperplasia ( J:237184 )

• by 7 months

lipofuscinosis ( J:237184 )

• autofluorescent cells aggregate between photoreceptors and retinal pigment epithelium

nervous system

abnormal retina bipolar cell morphology ( J:237184 )

• ectopically localized presynaptic terminals and abnormal extensions of dendrites into the outer nuclear layers

• increased ectopic synapses in the peripheral retina at 2 months of age and in the central retina at 7 months of age

retina photoreceptor degeneration ( J:237184 )

Genotype
MGI:6368814

ht2

• Allelic Composition: Tmem135^em1Aike/Tmem135^fun025
• Genetic Background: C57BL/6J-Tmem135^em1Aike/Tmem135^fun025

vision/eye

abnormal retina morphology ( J:237184 )

• as in Tmem135^fun025 homozygotes