Phenotypes Associated with This Genotype

Genotype
MGI:6883630

• Allelic Composition: Atf6^tm1.1Rjk/Atf6^tm1.1Rjk
• Genetic Background: involves: C57BL/6 * C57BL/6J

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

vision/eye

abnormal photoreceptor inner segment morphology ( J:231780 )

• 18-month-old mice show a disruption of the inner segment layer

abnormal photoreceptor outer segment morphology ( J:231780 )

• 18-month-old mice show a disruption of the outer segment layer

abnormal retina pigment epithelium morphology ( J:231780 )

• 18-month-old mice show a disruption of the retinal pigment epithelium

retina outer nuclear layer degeneration ( J:231780 )

• 18-month-old mice show 7-8 rows of nuclei in the outer nuclear layer compared to 10 rows in wild-type retina indicating mild degeneration

increased susceptibility to age-related retinal degeneration ( J:231780 )

• retinal degeneration is seen at 18 months of age, but not at 3 or 5 months of age

• retinal vasculature appears unaffected

abnormal electroretinogram waveform feature ( J:231780 )

• ERG recordings show both reduced rod and cone single-flash ERG responses in 18-month-old mice

• however, ERG recordings show normal rod and cone activity in young mice

decreased b-wave amplitude ( J:231780 )

• scotopic and photopic b-wave amplitudes are reduced at 18 months of age but not at 5 months of age

nervous system

abnormal photoreceptor inner segment morphology ( J:231780 )

• 18-month-old mice show a disruption of the inner segment layer

abnormal photoreceptor outer segment morphology ( J:231780 )

• 18-month-old mice show a disruption of the outer segment layer

pigmentation

abnormal retina pigment epithelium morphology ( J:231780 )

• 18-month-old mice show a disruption of the retinal pigment epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achromatopsia 7		DOID:0110009	OMIM:616517	J:231780