Description

Strain Information

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

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.

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.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Rom1^tm1Mci/Rom1^tm1Mci

        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

View Research Applications

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)

Genes & Alleles

Gene & Allele Information

Allele Symbol		Rom1tm1Mci
Allele Name		targeted mutation 1, Roderick R McInnes
Allele Type		Targeted (knock-out)
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]

Genotyping

Genotyping Information

Genotyping Protocols

Rom1^tm1Mci, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

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

Rom1^tm1Mci related

Chakraborty D; Ding XQ; Fliesler SJ; Naash MI. 2008. Outer segment oligomerization of Rds: evidence from mouse models and subcellular fractionation. Biochemistry 47(4):1144-56. [PubMed: 18171083]  [MGI Ref ID J:131062]

Kedzierski W; Nusinowitz S; Birch D; Clarke G; McInnes RR; Bok D; Travis GH. 2001. Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 98(14):7718-23. [PubMed: 11427722]  [MGI Ref ID J:77309]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX11

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.
Mating System	+/+ sibling x Heterozygote         (Female x Male)
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

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.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms 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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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

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

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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