Description

Strain Information

Type Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System Homozygote x Homozygote         (Female x Male)   21-FEB-13 Species laboratory mouse Generation N3F15 (21-FEB-13) Generation Definitions

Description
This congneic strain has the Fscn2^ahl8 allele backcrossed from DAB/2J onto C57BL/6J.

Development
This C57BL/6J subcongenic line with the DBA/2J-derived Fscn2^ahl8 mutation was developed by first crossing mice of the B6.D2-Chr11D/LusJ congenic strain (Davis et al., 2005) with C57BL/6J mice. The hybrid progeny from this cross were then mated with C57BL/6J mice, and the resulting backcross progeny were genotyped for five DNA microsatellite markers spanning the introgressed region of the B6.D2-Chr11D/LusJ congenic strain. Backcross mice that were homozygous for C57BL/6J alleles at markers D11Mit90, D11Mit360, D11Mit338, and D11Mit203, and heterozygous for C57BL/6J and DBA/2J alleles at D11Mit104 were selected and interbred. The progeny from these matings were genotyped and those that were confirmed to be homozygous for C57BL/6J alleles at D11Mit90 (70.5 Mb position of Chr 11, GRCm38), D11Mit360 (103.4 Mb), D11Mit338 (115.5 Mb), and D11Mit203 (116.4 Mb), and homozygous for DBA/2J alleles at D11Mit104 (119.3) and Fscn2 (120.4 Mb) were interbred to produce this homozygous subcongenic line. This strain is maintained by sibling inbreeding homozygotes.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying   Fscn2^ahl8 allele

000671

DBA/2J

View Strains carrying   Fscn2^ahl8     (1 strain)

Strains carrying other alleles of Fscn2

012438	D2.B6-Fscn2+/Kjn
012440	DBA/2J-Tg(RP24-180N9)2Kjn/Kjn

View Strains carrying other alleles of Fscn2     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Retinitis Pigmentosa 30; RP30   (FSCN2)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Fscn2^ahl8/Fscn2^ahl8

        DBA/2J

• hearing/vestibular/ear phenotype
• abnormal auditory brainstem response
  • although DBA/2J is homozygous for both Cdh23 and ahl8, through linkage analysis with CAST/Ei, which is wild-type at Cdh23, ahl8 is shown to contribute up to 37% of the 16 kHz ABR threshold variation in 13 week old homozygotes   (MGI Ref ID J:139223)
• • increased or absent threshold for auditory brainstem response
    • increased ABR threshold   (MGI Ref ID J:162868)
• decreased inner hair cell stereocilia number
  • hair bundles appear normal at 2 weeks of age but are progressively lost between 1 and 6 months of age   (MGI Ref ID J:162868)
• decreased outer hair cell stereocilia number
  • degeneration occurs earliest here   (MGI Ref ID J:162868)
• increased susceptibility to age-related hearing loss
  • hearing loss is progressive and shows a much earlier onset than in C57BL/6J, with average 16 kHz ABR thresholds approximately 50 dB higher at 10 weeks of age than in 30 week old C57BL/6J   (MGI Ref ID J:139223)
  • hearing appears normal at 2 weeks of age but is progressively lost, based upon measurement of auditory brainstem response between 1 and 6 months of age   (MGI Ref ID J:162868)
• nervous system phenotype
• decreased inner hair cell stereocilia number
  • hair bundles appear normal at 2 weeks of age but are progressively lost between 1 and 6 months of age   (MGI Ref ID J:162868)
• decreased outer hair cell stereocilia number
  • degeneration occurs earliest here   (MGI Ref ID J:162868)

View Research Applications

Research Applications

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

Fscn2^ahl8 related

Sensorineural Research
Hearing Defects
      Age related hearing loss

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Fscn2ahl8
Allele Name		age related hearing loss 18
Allele Type		Spontaneous
Common Name(s)		Fscn2R109H;
Strain of Origin		DBA/2J
Gene Symbol and Name		Fscn2, fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
Chromosome		11
Gene Common Name(s)		C630046B20Rik; RFSN; RIKEN cDNA C630046B20 gene; RP30; age related hearing loss 8; ahl8;
General Note		ahl8 interacts with Cdh23 on chromosome 10.
Molecular Note		G to A transition located in exon 1 and is of predicted to cause a nonsynonymous amino acid change of arginine to histidine at position 109 (R109H). The known genealogy of the DBA-related strains and genotyping analysis of archived DBA/2J DNA samples indicate that this allele occurred in the DBA/2J lineage between 1951 (when it was separated from the DBA/2N lineage) and 1975. [MGI Ref ID J:139223] [MGI Ref ID J:162868]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Fscn2^ahl8 related

Johnson KR; Longo-Guess C; Gagnon LH; Yu H; Zheng QY. 2008. A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice. Genomics 92(4):219-25. [PubMed: 18662770]  [MGI Ref ID J:139223]

Shin JB; Longo-Guess CM; Gagnon LH; Saylor KW; Dumont RA; Spinelli KJ; Pagana JM; Wilmarth PA; David LL; Gillespie PG; Johnson KR. 2010. The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice. J Neurosci 30(29):9683-94. [PubMed: 20660251]  [MGI Ref ID J:162868]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Colony Maintenance

Mating System	Homozygote x Homozygote         (Female x Male)   21-FEB-13

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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