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Genes & Alleles

Rom1;   Rom1tm1Mci;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Targeted Mutation Mating System +/+ sibling x Heterozygote         (Female x Male) Species laboratory mouse Donating Investigator Roderick McInnes,   Hospital for Sick Children Research Inst Generation ?+N1F2 (10-APR-08)

Strain Description
Mice that are homozygous for the targeted mutation are viable and normal in size. When heterozygous mice are bred together, homozygous animals occur at a greatly reduced frequency (~6%). No gene product (protein) is detected in retinal tissue from homozygotes by Western blot analysis. Onset of progressive retinal degeneration occurs at 2 months of age beginning with a thinning of the outer nuclear layer of retinal cells. Rod outer segments in 2 month old mice display disorganized arrangement, irregular gaps and amorphous aggregates. At 4 months of age organization of rod outer segments improves. TUNEL assay of mutant retinal tissue show photoreceptor degeneration is due to apoptotic cell death. Ultra structural organization of rod outer segment disks is disorganized, often with patches of enlarged disks. Electroretinogram a-wave analysis of photoreceptor function reveals a diminished maximal photoreceptor response (50% lower than wildtype). This mutant mouse strain may be useful in studies of autosomal recessive retinitis pigmentosa.

Strain Development
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt exon 1 and approximately 500bp of upstream sequence encoding the transcription initiation site. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting male chimeric animals were crossed to CD1 females, and then backcrossed to mixed 129 and CD1 for at least 5 generations. Upon arrival at The Jackson Laboratory, mutant mice were bred to 129S1/SvImJ (Stock No. 002448) inbred mice for at least one generation to establish the colony.

Mammalian Phenotype Terms assigned by genotype Rom1tm1Mci/Rom1tm1Mci         involves: 129S1/Sv * 129X1/SvJ * CD-1 vision/eye phenotype abnormal retina morphology (MGI Ref ID J:61888) abnormal retinal rod cell outer segment morphology (MGI Ref ID J:61888) rod outer segments are moderately disorganized at 1 month of age by 2 months of age there is a loss of parallel arrangement and gaps filled with amorphous material appear between outer segments there is a mixture of normal outer segments juxtaposed to others distorted with membranous whorls and large interdisk gaps rod outer segment organization improves somewhat after 4 months of age disks frequently have increased diameters; mean diameter is increased by 39% outer segment length is about 23% less than in control mice this is the result of a failure to increase in length between 1 and 2 months rather than progressive degeneration retinal rod cell degeneration (MGI Ref ID J:61888) rod photoreceptors apoptose although the rate of loss is slow the number of cone receptors is unchanged at 18 months of age thin retinal outer nuclear layer (MGI Ref ID J:61888) outer nuclear layer becomes progressively thinner after 2 months of age abnormal rod electrophysiology (MGI Ref ID J:61888) maximal rod photoreceptor response is 50% lower at 9 months than in age matched controls nervous system phenotype abnormal retinal rod cell outer segment morphology (MGI Ref ID J:61888) rod outer segments are moderately disorganized at 1 month of age by 2 months of age there is a loss of parallel arrangement and gaps filled with amorphous material appear between outer segments there is a mixture of normal outer segments juxtaposed to others distorted with membranous whorls and large interdisk gaps rod outer segment organization improves somewhat after 4 months of age disks frequently have increased diameters; mean diameter is increased by 39% outer segment length is about 23% less than in control mice this is the result of a failure to increase in length between 1 and 2 months rather than progressive degeneration retinal rod cell degeneration (MGI Ref ID J:61888) rod photoreceptors apoptose although the rate of loss is slow the number of cone receptors is unchanged at 18 months of age

Gene & Allele Details

Allele Symbol		Rom1tm1Mci
Allele Name		targeted mutation 1, Roderick R McInnes
Common Name(s)		Rom1-/-;
Strain of Origin		(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
ES Cell Line Name		R1
ES Cell Line Strain		(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Gene Symbol and Name		Rom1, rod outer segment membrane protein 1
Chromosome		19
Gene Common Name(s)		MGC105717; ROM; ROSP1; Rom-1; TSPAN23;
Molecular Note		The insertion of a neomycin selection cassette deleted exon 1 and a 5' portion of exon 2. Western blot analysis of crude retinal extracts showed an absence of encoded protein in homozygous mutant mice. [MGI Ref ID J:61888]

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Genotyping Protocols

Rom1^tm1Mci

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, heterozygous mice may be bred together or to wildtype siblings. It has been the experience of The Jackson Laboratory that homozygous animals occur at a greatly reduced frequency (~6%) from intercrosses of heterozygous animals.
Diet Information	LabDiet® 5K52/5K67

Animal Health Reports

Room Number           AX11

Research Applications

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

Apoptosis Research
Endogenous Regulators

Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive

Research Tools
Apoptosis Research
Sensorineural Research (retinal degeneration)

Sensorineural Research
Eye Defects
Retinal Degeneration (retinitis pigmentosa)

Rom1^tm1Mci related

Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive

Sensorineural Research
Retinal Degeneration (retinitis pigmentosa)

References

Selected Reference(s)

Clarke G; Goldberg AF; Vidgen D; Collins L; Ploder L; Schwarz L; Molday LL; Rossant J; Szel A; Molday RS; Birch DG; McInnes RR. 2000. Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nat Genet 25(1):67-73. [PubMed: 10802659]  [MGI Ref ID J:61888]

Additional References

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Price and Supply Information

Strain Name:	STOCK Rom1tm1Mci/J
Stock Number:	004510

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 Induced Mutant Resource Colony collection.
Licensing	See General Terms and Conditions below for Licensing and Use Restrictions
Control Information	View Control Information in Strain Details.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

For additional Licensing and Use Restrictions view the link(s) below:
- Mice originate from The Hospital for Sick Children.

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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