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General Terms and Conditions

Former Name	BALB/cByJ-Dscamdel17/RwbJ    (Changed: 06-DEC-07 )
Genes & Alleles	Dscam;   Dscamdel17;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Type JAX® GEMM® Strain - Spontaneous Mutation Mating System +/+ sibling x Heterozygote         (Female x Male) Species laboratory mouse Background Strain C57BL/6J Donor Strain BALB/cByJ H2 Haplotype b Generation N13 (11-APR-08)

Appearance
black
Related Genotype: a/a

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

Strain Description
Mice homozygous for this spontaneous mutation become severely uncoordinated by postnatal day 3, developing spontaneous seizures and kyphosis. On a mixed BALB/cBy and C57BL/6 background some homozygotes survive, are fertile and have a normal lifespan. On the C57BL/6 background, homozygotes exhibit a more severe phenotype and die shortly after birth.

With the exception of the caudal folium of the cerebellum, the central nervous system appears normal on a gross level, however, the retinal ganglion cell layer and inner plexiform layer exhibit disorganization by postnatal day 4. Retinal amacrine cells display defects in the arborization of processes and spacing of cell bodies. This mutant mouse strain may useful in studies of the retina and the mechanism of neuronal self-avoidance.

Strain Development
Although this spontaneous mutation arose on a C57BL/6J x BALB/cByJ F2 mapping cross, the mutation occurred in a BALB/cByJ genomic region. The colony is maintained as C57BL/6J female crossed to heterozygote male; the backcross reached N12 in 2007. Dr. Robert Burgess of The Jackson Laboratory provided the colony to the Repository in 2007.

Mammalian Phenotype Terms assigned by genotype The following phenotype information may relate to a genetic background differing from this JAX® Mice strain. Dscamdel17/Dscamdel17         involves: BALB/cByJ * C57BL/6J life span-post-weaning/aging *normal* life span-post-weaning/aging (MGI Ref ID J:129238) lifespan of greater than 24 months is observed vision/eye phenotype abnormal amacrine cell morphology (MGI Ref ID J:129238) dopaminergic amacrine cells exhibit defects in arborization by postnatal day 6 although process length and branch number are normal, there is an increase in the number of self-crossing processes that is evident by postnatal day 10 processes from many cells form large fascicles in the retina dopaminergic amacrine cells associate with fascicles, exhibit abnormal positioning of cell bodies and clump Nos1-positive amacrine cells have short, bundled processes and randomly spaced cell bodies abnormal retinal inner plexiform layer morphology (MGI Ref ID J:129238) mice exhibit disorganization of the IPL by postnatal day 4 disorganized retinal ganglion layer (MGI Ref ID J:129238) nervous system phenotype abnormal amacrine cell morphology (MGI Ref ID J:129238) dopaminergic amacrine cells exhibit defects in arborization by postnatal day 6 although process length and branch number are normal, there is an increase in the number of self-crossing processes that is evident by postnatal day 10 processes from many cells form large fascicles in the retina dopaminergic amacrine cells associate with fascicles, exhibit abnormal positioning of cell bodies and clump Nos1-positive amacrine cells have short, bundled processes and randomly spaced cell bodies abnormal cerebellar foliation (MGI Ref ID J:129238) disorganization of the caudal folium of the cerebellum seizures (MGI Ref ID J:129238) behavior/neurological phenotype impaired coordination (MGI Ref ID J:129238) mice exhibit severely impaired coordination by postnatal day 3 seizures (MGI Ref ID J:129238) skeleton phenotype kyphosis (MGI Ref ID J:129238)

Gene & Allele Details

Allele Symbol		Dscamdel17
Allele Name		deletion in exon 17
Strain of Origin		BALB/cByJ
Gene Symbol and Name		Dscam, Down syndrome cell adhesion molecule
Chromosome		16
Gene Common Name(s)		4932410A21Rik; CHD2-42; CHD2-52; RIKEN cDNA 4932410A21 gene;
Molecular Note		The mutation comprises a 38-bp deletion in exon 17 causing a translational frame shift that results in the incorporation of ten incorrect amino acids before the premature termination of the protein within the second fibronectin repeat. mRNA levels in brains of homozygous mutant mice are reduced by 70%. [MGI Ref ID J:129238]

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Colony Maintenance

Breeding & Husbandry	Most homozygotes die at or shortly after birth.
Diet Information	LabDiet® 5K52/5K67

Additional Web Information

Congenic Nomenclature

Animal Health Reports

Room Number           AX12

Research Applications

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

Neurobiology Research
Ataxia (Movement) Defects
Epilepsy

Sensorineural Research
Eye Defects

References

Selected Reference(s)

Fuerst PG; Koizumi A; Masland RH; Burgess RW. 2008. Neurite arborization and mosaic spacing in the mouse retina require DSCAM. Nature 451(7177):470-4. [PubMed: 18216855]  [MGI Ref ID J:129238]

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Price and Supply Information

Strain Name:	B6.CBy-Dscamdel17/RwbJ
Stock Number:	008000

Price Details

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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	Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details.

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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