Retinal degeneration
Retinal degeneration can take on many forms, including retinitis pigmentosa (RP), Leber's congenital amaurosis (LCA), and Usher syndrome. All of these diseases degenerate the retina (Foundation Fighting Blindness, www.blindness.org). We distribute a variety of mice models suitable for researching these disorders.
Leber's Congenital Amaurosis (LCA)
| B6(A)-Rpe65rd12/J |
This mutant is a model for Leber's congenital amaurosis (LCA), a collective term for a group of autosomal recessive diseases characterized by degeneration of retinal receptors and severe vision impairment at birth. (Leber's family web site, www.cafamily.org.uk/Direct/l23.html).
Retinal degeneration
| C3H/HeJ |
C3H/HeJ mice are used as a general purpose strain in a wide variety of research areas including cancer, immunology and inflammation, sensorineural, and cardiovascular biology research. C3H/HeJ mice and all other Jackson C3H substrains are homozygous for the retinal degeneration 1 mutation (Pde6brd1) causing blindness by weaning age.
| B6.C3Ga-Mfrprd6/J | |
| STOCK Crb1rd8/J |
To isolate Mfrprd6 and Crb1rd8 from STOCK Crb1rd8 Mfrprd6/J (described above), the latter was backcrossed to C57BL/6J, and offspring were selected for either Mfrprd6 or Crb1rd8, yielding B6.C3Ga-Mfrprd6/J and STOCK Crb1rd8/J respectively.
References
Chang B, Hawes NL, Hurd RE, Davisson MT, Nusinowitz S, Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42:517-25.
Mehalow AK, Kameya S, Smith RS, Hawes NL, Denegre JM, Young JA, Bechtold L, Haider NB, Tepass U, Heckenlively JR, Chang B, Naggert JK, Nishina PM. 2003. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet 12:2179-89.
| STOCK Nr2e3rd7/J |
As early as 16.5 days after birth, Nr2e3rd7 homozygotes have evenly distributed white spots covering their retinas. By 12.5 days after birth, before their eyes are open, they have whorls and rosettes in the outer nuclear layer. Whorls and spots are present by the time they are a month old, decrease in number by the time they are five months old, and disappear by the time they are16 months old. Rod and cone cells begin to degenerate by the time they are five months old, and their retinas have attenuated vessels, mottled pigment, and the outer nuclear layer is only half its normal thickness by the time they are 16 months old.
In humans, Enhanced S-cone syndrome has been associated with mutations in human NR2E3. Because Nr2e3 regulates photoreceptor cell differentiation, mice homozygous for the Nr2e3rd7 mutation model this disease.
References
Akhmedov NB, Piriev NI, Chang B, Rapoport AL, Hawes NL, Nishina PM, Nusinowitz S, Heckenlively JR, Roderick TH, Kozak CA, Danciger M, Davisson MT, Farber DB. 2000. A deletion in a photoreceptorspecific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A 97:5551-6.
Haider NB, Naggert JK, Nishina PM. 2001. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet 10:1619-26.
