Phenotypes associated with this allele

• Allele Symbol: Atf6^tm1.1Rjk
• Allele Name: targeted mutation 1.1, Randal J Kaufman
• Allele ID: MGI:3723526
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atf6^tm1.1Rjk/Atf6^tm1.1Rjk	involves: C57BL/6 * C57BL/6J	MGI:6883630
hm2	Atf6^tm1.1Rjk/Atf6^tm1.1Rjk	involves: C57BL/6 * FVB/N	MGI:3723589

Genotype
MGI:6883630

hm1

• 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

Genotype
MGI:3723589

hm2

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

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:124971 )

• mice are more sensitive to tunicamycin than wild-type mice in that treatment with tunicamycin increases cell death and most mice die following treatment whereas all treated wild-type mice survive

cellular

abnormal cell physiology ( J:124971 )

• expression of unfolded protein response target genes (Hspa5, Ddit3, Edem, and Dnajc3a) is decreased in mouse embryonic fibroblasts stressed with tunicamycin or thapsigargin

• expression of unfolded protein response target genes (Hspa5, Ddit3 and Dnajc3a) is decreased in liver cells stressed with tunicamycin in vivo

• degradation of an endoplasmic reticulum-associated protein degradation substrate (NHK), processing of Tfrc and secretion of secreted alkaline phosphatase are slowed following treatment with thapsigargin

decreased cell proliferation ( J:124971 )

• chronic exposure of mouse embryonic fibroblasts (MEFs) to endoplasmic reticulum stress (tunicamycin, thapsigargin or dithiothreitol) decreases cell proliferation relative to wild-type MEFs

abnormal endoplasmic reticulum physiology ( J:124971 )

homeostasis/metabolism

increased susceptibility to xenobiotic induced morbidity/mortality ( J:124971 )

• mice are more sensitive to tunicamycin than wild-type mice in that treatment with tunicamycin increases cell death and most mice die following treatment whereas all treated wild-type mice survive

increased physiological sensitivity to xenobiotic ( J:124971 )

• mouse embryonic fibroblast (MEF) cells take longer to return to homeostasis following exposure to dithiothreitol (DTT)

• MEFs exhibit no protection against thapsigargin or tunicamycin treatment after exposure to DTT

• following treatment with tunicamycin mice exhibit grossly discolored livers consistent with hepatic lipidosis

liver/biliary system

hepatic steatosis ( J:124971 )

• following treatment with tunicamycin mice exhibit grossly discolored livers consistent with hepatic lipidosis