Description

Strain Information

Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation F10p

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Pendred Syndrome; PDS - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Slc26a4^pdsm/Slc26a4^pdsm

        BXA7/PgnJ-Slc26a4^pdsm/J

• hearing/vestibular/ear phenotype
• abnormal scala media morphology (MGI Ref ID J:121997)
• abnormal organ of Corti (MGI Ref ID J:121997)
• decreased cochlear hair cell number (MGI Ref ID J:121997)
• absent cochlear hair cells (MGI Ref ID J:121997)
  • reduced or absent hair cells in the inner ear
• abnormal tectorial membrane morphology (MGI Ref ID J:121997)
  • malformation of the tectorial membrane
• absent otoliths (MGI Ref ID J:121997)
  • reduced or absent otoconia
• circling (MGI Ref ID J:121997)
• deafness (MGI Ref ID J:121997)
  • completely deaf at 29 and 80 days of age as determined by ABR
• decreased brainstem auditory evoked potential (MGI Ref ID J:121997)
  • no response was obtained to 100dB SPL
• decreased cochlear coiling (MGI Ref ID J:121997)
  • incomplete turning of the cochlea
• decreased otolith number (MGI Ref ID J:121997)
  • reduction of otoconia in the utricular and saccular maculae
• distended Reissner membrane (MGI Ref ID J:121997)
  • displacement of Reissner's membrane enlarges the scala media
• head bobbing (MGI Ref ID J:121997)
• head tilt (MGI Ref ID J:121997)
• reproductive system phenotype
• *normal* reproductive system phenotype (MGI Ref ID J:121997)
  • male fertility does not appear diminished despite reduced concentration and motility of sperm
• asthenozoospermia (MGI Ref ID J:121997)
  • sperm motility is greatly reduced
• oligozoospermia (MGI Ref ID J:121997)
  • reduced total concentration of sperm
• testicular atrophy (MGI Ref ID J:121997)
  • partial testicular atrophy
• behavior/neurological phenotype
• circling (MGI Ref ID J:121997)
• head bobbing (MGI Ref ID J:121997)
• head tilt (MGI Ref ID J:121997)
• endocrine/exocrine gland phenotype
• *normal* endocrine/exocrine gland phenotype (MGI Ref ID J:121997)
  • homozygotes do not display any signs of hypothyroidism as assessed by blood serum chemistry of thyroid histology from 4 to 53 weeks of age
• testicular atrophy (MGI Ref ID J:121997)
  • partial testicular atrophy
• nervous system phenotype
• absent cochlear ganglion (MGI Ref ID J:121997)
  • reduced or absent spiral ganglion cells
• decreased cochlear hair cell number (MGI Ref ID J:121997)
• absent cochlear hair cells (MGI Ref ID J:121997)
  • reduced or absent hair cells in the inner ear

Genes & Alleles

Gene & Allele Information

Allele Symbol		Slc26a4pdsm
Allele Name		Pendred's syndrome model
Allele Type		Spontaneous
Strain of Origin		BXA7/PgnJ
Gene Symbol and Name		Slc26a4, solute carrier family 26, member 4
Chromosome		12
Gene Common Name(s)		DFNB4; EVA; PDS; Pds; Pendred syndrome homolog (human); pendrin;
Molecular Note		A T-to-A transversion occurred spontaneously in exon 7 resulting in the introduction of a premature stop codon in the open reading frame. [MGI Ref ID J:121997]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Slc26a4^pdsm related

Gagnon LH; Gray S; Johnson KR. 2007. Pendred syndrome model, pdsm, a spontaneous mouse mutation in the Slc26a4 gene with associated inner ear abnormalities MGI Direct Data Submission :.  [MGI Ref ID J:121997]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	homozygous females are poor mothers

Purchasing information

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

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote 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

      Purchasing Information
      JAX^® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

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.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.