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Former Name	STOCK rd8    (Changed: 15-DEC-04 )
Genes & Alleles	Cdh23;   Cdh23ahl;   Crb1;   Crb1rd8;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Spontaneous Mutation Mating System Homozygote x Homozygote         (Female x Male) Species laboratory mouse Generation N3F12+ (09-OCT-03)

Appearance
black
Related Genotype: a/a

Important Note
The C57BL/6J background strain is homozygous for the age related hearing loss mutation Cdh23^ahl, which on this background results in progressive hearing loss with onset after 10 months of age.

Strain Development
The Cat^b (catalase 1 null) mutation was identified in a screen for low catalase activity by Feinstein et al. (1964, 1966) at Argonne National Laboratory of offpring of (C3H x 101) male mice irradiated at Oak Ridge National Laboratory (600 R in fractionated exposures), then crossed to females of the Oak Ridge "multiple recessive testing stock" derived from a cross of NB mice (aabbc^ch p/c^ch p d se/d se) and mice of a non-inbred stock homozygous for three of the same recessive mutations, as well as for s, from which mice homozygous for all seven mutations were bred and maintained afterward by random breeding (Russell 1951). Putative heterozygotes for catalase deficiency were crossed to normal mice (not clearly identified, but presumably unirradiated progeny of (101 x C3H)F1 X ORNL testing stock), and offspring exhibiting low catalase activity were backcrossed to the heterozygous parent (Feinstein et al. 1966).Cat^b was subsequently transferred by backcrossing for eight generations onto C3H/HeAnl, a line carrying mouse mammary tumor virus (MMTV) and another line (C3Hf) free of the virus (Feinstein et al. 1978). The Jackson Laboratory received C3HfB/Ga-Cat^b from Allen H. Gates, then at the University of Rochester, in 1982.

Although all C3H strains carry the rd1 (retinal degeneration 1) mutation at Pde6b, the gene encoding the beta subunit of phosphodiesterase 1, retinas of these mice exhibited a peculiar, granular appearance distinct from the usual Pde6b^rd1 phenotype. F2 progeny of a cross of C3HfB/Ga-Cat^b and C57BL/6J mice exhibited three retinal phenotypes: 1) normal; 2) patches of pigment deposition and large, diffuse pigmented regions typical Pde6b^rd1 homozygotes; and 3) small, discrete, light-colored dots throughout the fundus. Mice exhibiting the last phenotype were intercrossed among themselves to produce a stock homozygous for Mfrp^rd6 and for the wild-type allele at Pde6b. During this process, a separate mutation with a distinct map position was identified and characterized as Crb1^rd8. STOCK Crb1^rd8 Mfrp^rd6/J (stock #004299) is homozygous for both Mfrp^rd6 and Crb1^rd8 on this mixed genetic background that derived in part from C57BL/6J, C3H, 101, and a linkage testing stock derived from non-inbred stocks. In order to isolate Mfrp^rd6 and Crb1^rd8 this strain was backcrossed to C57BL/6J, and selection for either Mfrp^rd6 or Crb1^rd8 yielded B6.C3Ga-Mfrp^rd6/J (stock #003684) and STOCK Crb1^rd8/J (stock #003392) respectively.

Mammalian Phenotype Terms assigned by genotype Crb1rd8/Crb1rd8         STOCK Crb1rd8/J vision/eye phenotype abnormal ocular fundus morphology (J:85459) mice exhibit large, irregularly shaped spots concentrated in the inferior nasal quadrant of the fundus as early as week 3 that correspond to retinal folds and pseudorosettes abnormal retina morphology (J:85459) retinal thinning in both the inner and outer segment is observed the external limiting membrane in the retina is fragmented and disorganized at 2 weeks and is more severe at 4 weeks abnormal Muller cell morphology (J:85459) Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild type mice abnormal retinal photoreceptor morphology (J:85459) the photoreceptor lamellae breaks down abnormal photoreceptor inner segment morphology (J:85459) the photoreceptor inner segments lose their orderly arrangement by 5 months the inner segment approaches the retinal pigment epithelium swelling occurs in portions of the inner segments short photoreceptor inner segment (J:85459) at 4 weeks the photoreceptor inner segments are 25% shorter decreased retinal photoreceptor cell number (J:85459) in the region of focal degeneration photoreceptors are lost photoreceptor outer segment degeneration (J:85459) by week 10 the outer segment begins to fragment by 5 months only a few outer segment fragments remain short photoreceptor outer segment (J:85459) the photoreceptor outer segments are shortened thin retinal outer nuclear layer (J:85459) in older mice, the retinal outer nuclear layer is reduced to a single row of nuclei nervous system phenotype abnormal Muller cell morphology (J:85459) Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild type mice abnormal retinal photoreceptor morphology (J:85459) the photoreceptor lamellae breaks down abnormal photoreceptor inner segment morphology (J:85459) the photoreceptor inner segments lose their orderly arrangement by 5 months the inner segment approaches the retinal pigment epithelium swelling occurs in portions of the inner segments short photoreceptor inner segment (J:85459) at 4 weeks the photoreceptor inner segments are 25% shorter decreased retinal photoreceptor cell number (J:85459) in the region of focal degeneration photoreceptors are lost photoreceptor outer segment degeneration (J:85459) by week 10 the outer segment begins to fragment by 5 months only a few outer segment fragments remain short photoreceptor outer segment (J:85459) the photoreceptor outer segments are shortened The following phenotype information may relate to a genetic background differing from this JAX® Mice strain. Crb1rd8/Crb1rd8         involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ vision/eye phenotype abnormal retina morphology (J:85459) 19% of mice do not display the spotting phenotype on a CAST/EiJ mixed background Crb1rd8/Crb1rd8         B6.Cg-Crb1rd8 vision/eye phenotype *normal* vision/eye phenotype (J:85459) mice no longer display the spotting phenotype when backcrossed from a CAST/EiJ background onto a C57BL/6 background

Gene & Allele Details

Allele Symbol		Crb1rd8
Allele Name		retinal degeneration 8
Common Name(s)		nmf144;
Strain of Origin		C57BL/6J
Gene Symbol and Name		Crb1, crumbs homolog 1 (Drosophila)
Chromosome		1
Gene Common Name(s)		7530426H14Rik; A930008G09Rik; LCA8; RIKEN cDNA 7530426H14 gene; RIKEN cDNA A930008G09 gene; RP12;
Molecular Note		The mutation in the rd8 mouse has been identified as a single base deletion in the Crb1 gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein. [J:85459]
Allele Symbol		Cdh23ahl
Allele Name		age related hearing loss 1
Common Name(s)		Cdh23753A; mdfw;

Control Information

Allele	Control
Crb1rd8	000664 C57BL/6J	(approximate)
		C57BL/6J (Stock Number 000664) is only an approximate control for this stock, whose genetic background is ~87.5% C57BL/6J and ~12.5% C3HfB/Ga.
Considerations for Choosing Controls
Control Pricing Information for JAX® GEMM® Strains

Related Strains

Strains carrying   Cdh23^ahl allele

001137	129P1/ReJ
000690	129P3/J
002065	129T2/SvEmsJ
000691	129X1/SvJ
000646	A/J
000647	A/WySnJ
003070	ALR/LtJ
003072	ALS/LtJ
004502	B6;AKR-Lxl2/J
001026	BALB/cByJ
000653	BUB/BnJ
005494	C3.129S1(B6)-Grm1rcw/J
000664	C57BL/6J
004764	C57BL/6J-Cdh23v-8J/J
003129	C57BL/6J-Epha4rb-2J/J
004820	C57BL/6J-Kcne12J/J
004703	C57BL/6J-Nmf134/J
004811	C57BL/6J-nmf110/J
004812	C57BL/6J-nmf111/J
004747	C57BL/6J-nmf118/J
004656	C57BL/6J-nmf88/J
004391	C57BL/6J-Chr 13A/J/NaJ
004385	C57BL/6J-Chr 7A/J/NaJ
000662	C57BLKS/J
000667	C57BR/cdJ
000668	C57L/J
000669	C58/J
000657	CE/J
000670	DBA/1J
001140	DBA/1LacJ
000671	DBA/2J
007048	DBA/2J-Gpnmb+/SjJ
002106	KK/HlJ
000675	LG/J
000676	LP/J
000677	MA/MyJ
001976	NOD/ShiLtJ
002050	NOR/LtJ
000679	P/J
002747	SENCARB/PtJ
002335	SKH2/J

View Strains carrying   Cdh23^ahl     (41 strains)

Strains carrying   Crb1^rd8 allele

004852

B6;129-Crb1rd8/J

View Strains carrying   Crb1^rd8     (1 strain)

Strains carrying other alleles of Cdh23

008288	B6(Cg)-Cdh23v-11J/J
002756	B6.CAST-Cdh23Ahl+/Kjn
002432	B6J x B6.C-H2bm1/ByJ-Cdh23v-J/J
002552	C57BL/6J-Cdh23v-2J/J
004764	C57BL/6J-Cdh23v-8J/J
004819	C57BL/6J-Cdh23v-9J/J
005016	CByJ;B6-Cdh23v-10J/J
000275	V/LeJ

View Strains carrying other alleles of Cdh23     (8 strains)

Animal Health Reports

Room Number           A1

Research Applications

This mouse can be used to support research in many areas including:

Cdh23^ahl related

Neurobiology Research
Vestibular and Hearing Defects (Age related hearing loss)

Sensorineural Research
Vestibular and Hearing Defects (Age related hearing loss)

Crb1^rd8 related

Cell Biology Research
Defects in Cell Adhesion Molecules

Developmental Biology Research
Eye Defects

Mouse/Human Gene Homologs
Retinitis pigmentosa 12; Leber congenital amaurosis (CLA)

Sensorineural Research
Retinal Degeneration

References

Selected Reference(s)

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(17):2179-89. [PubMed: 12915475]  [J:85459]

Additional References

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Price and Supply Information

Strain Name:	STOCK Crb1rd8/J
Stock Number:	003392

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:

• USA, Canada and Mexico
• International

*Pricing for Shipping Destination selected:

        International

Price(s) in US dollars ($)		Genotype(s) Provided
Individual Mouse Price	$136.30	Homozygous for Crb1rd8
Pair	$272.50	Homozygous for Crb1rd8 x Homozygous for Crb1rd8

Supply Details

Standard Supply	Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes	Histology and Tissue Collection Services are available for all JAX® Mice strains. For more information, please contact Customer Service at orderquest@jax.org or 1-207-288-5845. Usually shipped between four and eight weeks of age. This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details. View Control Pricing Information for JAX® Strains.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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