Phenotypes associated with this allele

• Allele Symbol: Nrf1^{tm1c(KOMP)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:6272010
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nrf1^tm1c(KOMP)Wtsi/Nrf1^tm1c(KOMP)Wtsi Tg(Six3-cre)69Frty/0	involves: C57BL/6N * DBA/2	MGI:6383435
cn2	Nrf1^tm1c(KOMP)Wtsi/Nrf1^tm1c(KOMP)Wtsi Tg(Rho-icre)1Ck/0	involves: C57BL/6N * SJL	MGI:6383436

Genotype
MGI:6383435

cn1

• Allelic Composition: Nrf1^{tm1c(KOMP)Wtsi}/Nrf1^{tm1c(KOMP)Wtsi}; Tg(Six3-cre)69Frty/0
• Genetic Background: involves: C57BL/6N * DBA/2

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

vision/eye

abnormal retina morphology ( J:267504 )

• disrupted and acellular central region near the optic disc

abnormal retina progenitor cell morphology ( J:267504 )

• severe reduction in proliferation at E13.5

abnormal retina layer morphology ( J:267504 )

• large sub-retinal space between the retina and pigmented epithelium

abnormal retina neuronal layer morphology ( J:267504 )

• reduced cell numbers in all cellular layers at P20 and 7 months of age

• disrupted laminar layers at 7 months of age

decreased retina ganglion cell number ( J:267504 )

• few Isl1+ retinal ganglion cells at E12.5

• few Pou4f2+ retinal ganglion cells

• at E16.5, newly differentiated retinal ganglion cells spread to the peripheral region failing to migrate toward the vitreous layer

absent retina ganglion layer ( J:267504 )

• near complete abolishment as early as E14.5

thin retina ganglion layer ( J:267504 )

• at E16.5

decreased total retina thickness ( J:267504 )

• small and thin at E16.5

• at P20

retina hypoplasia ( J:267504 )

• at P20 and 7 months of age

cellular

abnormal axon extension ( J:267504 )

• defective axon outgrowth in E13.5 retinal explants

nervous system

abnormal axon extension ( J:267504 )

• defective axon outgrowth in E13.5 retinal explants

decreased retina ganglion cell number ( J:267504 )

• few Isl1+ retinal ganglion cells at E12.5

• few Pou4f2+ retinal ganglion cells

• at E16.5, newly differentiated retinal ganglion cells spread to the peripheral region failing to migrate toward the vitreous layer

Genotype
MGI:6383436

cn2

• Allelic Composition: Nrf1^{tm1c(KOMP)Wtsi}/Nrf1^{tm1c(KOMP)Wtsi}; Tg(Rho-icre)1Ck/0
• Genetic Background: involves: C57BL/6N * SJL

vision/eye

decreased retina cone cell number ( J:267504 )

• at 8 weeks of age

decreased retina rod cell number ( J:267504 )

• at 8 weeks of age

short photoreceptor inner segment ( J:267504 )

• at 6 weeks of age

short photoreceptor outer segment ( J:267504 )

• at 6 weeks of age

retina rod cell degeneration ( J:267504 )

thin retina outer nuclear layer ( J:267504 )

• starting at 8 weeks of age and almost disappeared at 5 months

abnormal cone electrophysiology ( J:267504 )

• b-wave amplitudes decline at 8 weeks and are undetectable beyond 10 weeks of age

abnormal rod electrophysiology ( J:267504 )

• a-wave amplitudes decline at 6 weeks and are completely diminished at 3 months of age

cellular

abnormal mitochondrial morphology ( J:267504 )

• more rounded shape in rod cells with clustering of mitochondria near the outer limiting membrane unlike in wild-type cells

decreased mitochondrial size ( J:267504 )

• in rod cells

increased mitochondrial number ( J:267504 )

• 2.5 times in rod cells of the inner segment

abnormal mitochondrial physiology ( J:267504 )

• reduced COX activity in rod cells of the inner segment

nervous system

decreased retina cone cell number ( J:267504 )

• at 8 weeks of age

decreased retina rod cell number ( J:267504 )

• at 8 weeks of age

short photoreceptor inner segment ( J:267504 )

• at 6 weeks of age

short photoreceptor outer segment ( J:267504 )

• at 6 weeks of age

retina rod cell degeneration ( J:267504 )