Overview

Also Known As:Ptprq-CAT-KO

These Ptprq knock-out mice have abnormal development of the organ of Corti and exhibit deafness.

Donating Investigator

Daniel F. Bowen-Pope, University of Washington 357470

Genetic overview

Genetic Background	Generation

Ptprq^tm2Bow

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout)	Ptprq	protein tyrosine phosphatase, receptor type, Q

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Research Applications

Neurobiology Research
Sensorineural Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by immunofluorescence labeling analysis of the inner ear. Homozygotes do not respond to the 20kHz toneburst of a hearing test at 3 months of age. Although embryonic development of the inner ear is normal, newborns exhibit disorganized and defective hair cell bundles. Histological analysis reveals an absence of hair cells in the organ of Corti and some animals are missing the organ of Corti completely. Inner hair cells have missing or defective stereocilia. This mutant mouse strain may be useful in studies related to deafness.

Development

A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt 1061 bp sequence containing the 2 exons encoding the catalytic domain and flanking sequence. The construct was electroporated into 129-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts.

Control Suggestions

Wildtype mice from the colony or C57BL/6J (000664) can be used as controls.
Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Goodyear RJ; Legan PK; Wright MB; Marcotti W; Oganesian A; Coats SA; Booth CJ; Kros CJ; Seifert RA; Bowen-Pope DF; Richardson GP. 2003. A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. J Neurosci 23(27):9208-19PubMed: 14534255 MGI: J:85926

View All References

Genetics

Ptprq^tm2Bow

Allele Symbol: Ptprq^tm2Bow

Allele Name	targeted mutation 2, Daniel F Bowen-Pope
Allele Type	Targeted (Null/Knockout)
Allele Synonym(s)	Ptprq-CAT-KO
Gene Symbol and Name	Ptprq, protein tyrosine phosphatase, receptor type, Q
Gene Synonym(s)
Strain of Origin	129/Sv
Chromosome	10
Molecular Note	A 1061 bp fragment encompassing 2 exons, encoding a portion of the cytoplasmic domain including the catalytic site, was replaced with a neomycin selection cassette inserted by homologous recombination. While, mutant transcript lacking the targeted fragment was detected by RT-PCR analysis of cochlear RNA obtained from homozygous mutant mice, protein was undetected by immunostaining. Absence of protein was further verified using antisera to the C-terminal.
Mutations Made By	Daniel Bowen-Pope, University of Washington 357470

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Ptprq^tm2Bow related

Neurobiology Research
- Hearing Defects
Sensorineural Research
- Hearing Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Ptprq^tm2Bow/Ptprq^tm2Bow
involves: 129 * C57BL/6

hearing/vestibular/ear phenotype

organ of Corti degeneration
- between P21 and P80, some homozygotes exhibit a complete loss of the organ of Corti

abnormal hair cell mechanoelectric transduction
- Normal - rmal
- Normal - however, the shape of transducer currents, fast, submillisecond adaptation and slow adaptation at both the onset of excitatory and the offset of inhibitory stimuli, and the resting transducer current at hyperpolarized and depolarized potentials, remain normal
- basal-coil OHCs obtained from homozygotes (aged P5-P7) show a reduction in mechanoelectrical transducer current amplitudes relative to heterozygotes, most likely due to the loss of stereocilia

cochlear hair cell degeneration
- hair cells are still present in the organ of Corti until at least P22; however, complete loss of hair cells is noted between P21 and P80
- at 3 months of age, homozygotes show absence of hair cells in the basal, high-frequency end while the apical, low-frequency end of the cochlea appears unaffected
- Normal - in contrast, no hair cell loss is observed in the vestibular organs

fused inner hair cell stereocilia
- remaining IHC stereocilia are often fused

abnormal outer hair cell stereociliary bundle morphology
- mutant hair bundles fail to develop the typical broader, flatter, and wider-angled appearance of wild-type hair bundles in the basal end of the cochlea
- by P8, homozygotes display disorganization in the hair-bundle structure of OHCs in the basal-most regions of the cochlea
- mutant OHC hair bundles are smaller, exhibit a less distinctive V-shaped form and are more U-shaped

absent vestibular hair bundle shaft connectors
- at P21, homozygotes exhibit complete absence of shaft connectors (defined as dense particles plus stalks), from the extrastriolar hair bundles of the utricular macula
- Normal - however, the stereocilia forming the hair bundle are not splayed

abnormal cochlear hair cell stereociliary bundle morphology
- by P8, defects in hair-bundle structure become more pronounced and are readily observed on both IHCs and OHCs
- defects in hair-bundle structure are first apparent in IHCs at P1

decreased inner hair cell stereocilia number
- many IHC stereocilia are absent

abnormal inner hair cell stereociliary bundle morphology
- at P1, homozygotes display varying degrees of disorganization in the hair-bundle structure of IHCs in the basal-most regions of the cochlea, not evident at E18.5

abnormal orientation of inner hair cell stereociliary bundles
- remaining IHC stereocilia are often misaligned

abnormal vestibular hair cell stereociliary bundle morphology
- close apposition of the stereocilia is noted in ruthenium red-stained preparations; however, the spacing of stereocilia appears normal in the absence of ruthenium red

deafness

short outer hair cell stereocilia
- OHC stereocilia are shorter than normal; however, stereocilial fusion is rarely observed

behavior/neurological phenotype

absent pinna reflex
- however, no overt, behavioral vestibular phenotype is observed
- at 3 months of age, homozygotes fail to respond with a Preyer's reflex to a 20 kHz tone burst
- Normal - however, no overt behavioral vestibular phenotype is observed

nervous system phenotype

abnormal inner hair cell stereociliary bundle morphology
- at P1, homozygotes display varying degrees of disorganization in the hair-bundle structure of IHCs in the basal-most regions of the cochlea, not evident at E18.5

absent vestibular hair bundle shaft connectors
- Normal - however, the stereocilia forming the hair bundle are not splayed
- at P21, homozygotes exhibit complete absence of shaft connectors (defined as dense particles plus stalks), from the extrastriolar hair bundles of the utricular macula

abnormal hair cell mechanoelectric transduction
- Normal - however, the shape of transducer currents, fast, submillisecond adaptation and slow adaptation at both the onset of excitatory and the offset of inhibitory stimuli, and the resting transducer current at hyperpolarized and depolarized potentials, remain normal
- basal-coil OHCs obtained from homozygotes (aged P5-P7) show a reduction in mechanoelectrical transducer current amplitudes relative to heterozygotes, most likely due to the loss of stereocilia
- Normal - rmal

cochlear hair cell degeneration
- hair cells are still present in the organ of Corti until at least P22; however, complete loss of hair cells is noted between P21 and P80
- at 3 months of age, homozygotes show absence of hair cells in the basal, high-frequency end while the apical, low-frequency end of the cochlea appears unaffected
- Normal - in contrast, no hair cell loss is observed in the vestibular organs

abnormal orientation of inner hair cell stereociliary bundles
- remaining IHC stereocilia are often misaligned

abnormal cochlear hair cell stereociliary bundle morphology
- by P8, defects in hair-bundle structure become more pronounced and are readily observed on both IHCs and OHCs
- defects in hair-bundle structure are first apparent in IHCs at P1

abnormal outer hair cell stereociliary bundle morphology
- by P8, homozygotes display disorganization in the hair-bundle structure of OHCs in the basal-most regions of the cochlea
- mutant OHC hair bundles are smaller, exhibit a less distinctive V-shaped form and are more U-shaped
- mutant hair bundles fail to develop the typical broader, flatter, and wider-angled appearance of wild-type hair bundles in the basal end of the cochlea

decreased inner hair cell stereocilia number
- many IHC stereocilia are absent

fused inner hair cell stereocilia
- remaining IHC stereocilia are often fused

short outer hair cell stereocilia
- OHC stereocilia are shorter than normal; however, stereocilial fusion is rarely observed

abnormal vestibular hair cell stereociliary bundle morphology
- close apposition of the stereocilia is noted in ruthenium red-stained preparations; however, the spacing of stereocilia appears normal in the absence of ruthenium red

References

Goodyear RJ; Legan PK; Wright MB; Marcotti W; Oganesian A; Coats SA; Booth CJ; Kros CJ; Seifert RA; Bowen-Pope DF; Richardson GP. 2003. A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. J Neurosci 23(27):9208-19PubMed: 14534255 MGI: J:85926

Additional References

Wright MB; Hugo C; Seifert R; Disteche CM; Bowen-Pope DF. 1998. Proliferating and migrating mesangial cells responding to injury express a novel receptor protein-tyrosine phosphatase in experimental mesangial proliferative glomerulonephritis. J Biol Chem 273(37):23929-37PubMed: 9727007 MGI: J:49745

Additional - Ptprq^tm2Bow related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Ptprq
- Genotyping resources and troubleshooting
Breeding Considerations

This strain originated on a B6;129 background, was backcrossed for 6 generations on the C57BL/6J background.
- Additional Breeding and Husbandry Support
Citation
When using the Ptprq-CAT-KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #004833 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Heterozygous or Wild-type for Ptprq<tm2Bow>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:Ptprq-CAT-KO

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Ptprqtm2Bow

Allele Symbol: Ptprqtm2Bow

Disease Terms

Research Areas By Phenotype

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

Genotype: Ptprqtm2Bow related

Mammalian Phenotype Terms by Genotype

Genotype: Ptprqtm2Bow/Ptprqtm2Bowinvolves: 129 * C57BL/6

hearing/vestibular/ear phenotype

behavior/neurological phenotype

nervous system phenotype

References

Additional References

Additional - Ptprqtm2Bow related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Ptprq^tm2Bow

Allele Symbol: Ptprq^tm2Bow

Genotype: Ptprq^tm2Bow related

Genotype: Ptprq^tm2Bow/Ptprq^tm2Bow
involves: 129 * C57BL/6

Additional - Ptprq^tm2Bow related