Jackson Laboratory SEARCH FOR MICE
C57BL/6-Ap1g1fgt/KjnBoc
Stock No: 006487
  • Coisogenic
  • Spontaneous Mutation
Contact Customer Service
Contact Customer Service
  • Email
  • Download PDF
  • Print
  • Help
  • Overview
  • Details
    • Detailed Description
    • Development
    • Control Suggestions
    • Selected References
  • Genetics
  • Disease/Phenotype
    • Disease Terms
    • Research Areas By Phenotype
    • Mammalian Phenotype Terms by Genotype
    • References
  • Technical Support
    • Genotyping Protocols
    • Breeding Considerations
    • Mating System
    • Breeder Pairs
    • Citation
    • Animal Health Reports
    • Contact Technical Support
  • Pricing & Availability
    • Price
    • Payment Terms
    • Related Products and Services
  • Terms Of Use
  • Related Strains

Overview

This spontaneous 2 base pair deletion provides a viable recessive allele, which causes thyroid defects, neovascular retinaopathy, sperm defects, and hair cell loss in the crista ampullaris and organ of Corti, phenotypes that are distinct from those of a targeted disruption that causes homozygous embryonic lethal before implantation. This allele is valuable in characterizing this component of the AP-1 complex.

Read More +

Genetic overview

Genetic Background Generation
N2F21
(2020-04-23 00:00:00)

Ap1g1fgt

Allele Type Gene Symbol Gene Name
Spontaneous (Hypomorph) Ap1g1 adaptor protein complex AP-1, gamma 1 subunit
View Genetics

Research Applications

View All Research Applications

Base Price

Starting at:

$215.26 Domestic price for female
430.51 Domestic price for breeder pair
View Price List

Details

Detailed Description

The recessive figure eight mutation causes thyroid defects, neovascular retinaopathy, sperm defects, and hair cell loss in the crista ampullaris and organ of Corti. Homozygotes display head tilting and circling behaviors and an inability to orient in water to swim. By one month of age ABR thresholds are elevated by approximately 40 dB across all frequencies, and by six months of age homozygotes have no detectable ABR, even at 100 dB. Histology of the inner ears at one month of age found no cochlear abnormalities, but by three months of age there is complete degeneration of the organ of Corti. Scanning electron microscopy of the organ of Corti at 5 weeks of age revealed the absence of some outer hair cell bundles, greatest near the apex and base, but normal inner hair cells and normal orientation and patterning of hair cells. Vestibular hair cell loss was also found in cross sections of the crista ampullaris. Scattered depigmented spots of the retina are found at 6 weeks of age, which develop into large depigmented areas by 16 weeks of age and newly formed vessels are found in the retina at both time points. Choroidal neovascularization with leakage was found by fluorescein angiography. Despite these defects, electroretinaograms showed normal amplitudes at 16 weeks of age. Homozygotes also have thyroid defects, with only a few normal follicles and many highly proliferating epithelial cells found at 15 weeks of age. Serum T4 levels are lower than normal, and homozygotes have a reduced body size, with females weighing an average of 5.9g less and males 3g less than controls between 4 and 6 weeks of age. Homozygous males have reduced fertility, but do reproduce. The germinal epithelium of the testes is disorganized, there are fewer maturing sperm cells, reduced total concentration of spermatozoa, and reduced sperm motility, with nearly half of the mature spermatozoa having their tail bent at the mid-piece. Nevertheless, all meiotic stages are present in the seminiferous tubules.

Development

The figure eight mutation arose spontaneously at The Jackson Laboratory in the strain C57BL/6-Tg(APOA1)1Rub/J and a mutant was bred to C57BL/6J and genotyped to select against Tg(APOA1)1Rub. One additional backcross to C57BL/6J was done before the strain was maintained by sibling breeding heterozygous females with, primarily, homozygous males.

Control Suggestions

  • Wild-type from the colony
  • 000664 C57BL/6J

Additional Information

  • Considerations for Choosing Controls

Selected References

  • Johnson KR; Gagnon LH; Chang B. 2016. A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice. Mamm Genome 27(5-6):200-12PubMed: 27090238MGI: J:230572
View All References

Genetics

Ap1g1fgt

Allele Symbol: Ap1g1fgt

Allele Name figure eight
Allele Type Spontaneous (Hypomorph)
Allele Synonym(s)
Gene Symbol and Name Ap1g1, adaptor protein complex AP-1, gamma 1 subunit
Gene Synonym(s)
Strain of Origin C57BL/6-Tg(APOA1)1Rub/J
Chromosome 8
Molecular Note This spontaneous 6 bp deletion of TTTCTG in exon 13 of NM009677, isoform 1, and exon 12 of Nm002301211, isoform 2, is predicted to cause an in-frame deletion of F391 and L392 of isoform 1, or F388 and L389 of isoform 2, amino acids which are in the adaptin N-terminal homology domain involved in interactions with other subunitos of the AP-1 complex.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Ap1g1fgt/Ap1g1fgt
involves: C3HeB/FeJ * C57BL/6J

behavior/neurological phenotype

  • circling
    • Background Sensitivity - in the (C57BL/6J x C3HeB/FeJ) x C57BL/6J backcross mapping population the circling and head tossing phenotypes has only approximately 70% penetrance instead of the complete penetrance on the C57BL/6 background
    • (MGI Ref ID J:230572)
  • head tossing
      (MGI Ref ID J:230572)

Genotype: Ap1g1fgt/Ap1g1fgt
C57BL/6-Ap1g1/KjnBoc

endocrine/exocrine gland phenotype

  • abnormal thyroid gland morphology
    • at 16 weeks of age only a few normal follicles are found, there are highly proliferating epithelial cells that give rise to goiters, and the T4 levels are significantly lower than normal especially at younger ages
    • (MGI Ref ID J:230572)
  • abnormal thyroid follicle morphology
      (MGI Ref ID J:230572)
  • abnormal thyroid follicular cell morphology
      (MGI Ref ID J:230572)

growth/size/body region phenotype

  • decreased body weight
    • females and, to a lesser degree, males have a lower body weight as assessed between 4 and 6 weeks of age
    • (MGI Ref ID J:230572)

hearing/vestibular/ear phenotype

  • decreased vestibular hair cell number
      (MGI Ref ID J:230572)
  • vestibular hair cell degeneration
    • cross-sectional analysis of the crista ampullaris shows loss of vestibular hair cells
    • (MGI Ref ID J:230572)
  • organ of Corti degeneration
    • at 1 month of age the cochlear structures are fairly normal, but by 3 months of age the organ of Corti is completely degenerated
    • (MGI Ref ID J:230572)
  • increased or absent threshold for auditory brainstem response
    • by 1 month of age ABR thresholds are approximately 40 dB higher at all frequencies, and by 6 months of age there is no detectable ABR even at 100 dB
    • (MGI Ref ID J:230572)
  • cochlear outer hair cell degeneration
    • inner and outer hair cells are normal at 1 month of age, but by 5 weeks of age some outer hair cells are missing stereocilia bundles and this is greater near the apex and base of the cochlea than the mid-region
    • (MGI Ref ID J:230572)
  • decreased cochlear outer hair cell number
      (MGI Ref ID J:230572)

homeostasis/metabolism phenotype

  • decreased circulating thyroxine level
      (MGI Ref ID J:230572)

nervous system phenotype

  • decreased vestibular hair cell number
      (MGI Ref ID J:230572)
  • cochlear outer hair cell degeneration
    • inner and outer hair cells are normal at 1 month of age, but by 5 weeks of age some outer hair cells are missing stereocilia bundles and this is greater near the apex and base of the cochlea than the mid-region
    • (MGI Ref ID J:230572)
  • vestibular hair cell degeneration
    • cross-sectional analysis of the crista ampullaris shows loss of vestibular hair cells
    • (MGI Ref ID J:230572)
  • decreased cochlear outer hair cell number
      (MGI Ref ID J:230572)

reproductive system phenotype

  • oligozoospermia
      (MGI Ref ID J:230572)
  • asthenozoospermia
      (MGI Ref ID J:230572)
  • kinked sperm flagellum
    • approximately 30 to 50% of mature spermatozoa have tails that are bent at the mid-piece
    • (MGI Ref ID J:230572)
  • decreased male germ cell number
    • although all meiotic stages are present in the seminiferous tubules, the number of maturing sperm cells is reduced in homozygotes by approximately 40%
    • (MGI Ref ID J:230572)
  • reduced male fertility
      (MGI Ref ID J:230572)

behavior/neurological phenotype

  • head tossing
    • Background Sensitivity - although only approximately 70 of homozygotes on mixed C57BL/6J x C3HeB/FeJ background display head tossing and circling, it is higher on the pure C57BL/6J background
    • (MGI Ref ID J:230572)
  • head tilt
      (MGI Ref ID J:230572)
  • impaired swimming
      (MGI Ref ID J:230572)
  • circling
    • Background Sensitivity - although only approximately 70 of homozygotes on mixed C57BL/6J x C3HeB/FeJ background display head tossing and circling, it is higher on the pure C57BL/6J background
    • (MGI Ref ID J:230572)

vision/eye phenotype

  • retinal degeneration
    • in older homozygotes
    • (MGI Ref ID J:230572)
  • retinal spots
    • scattered depigmented spots are found by 6 weeks of age and large depigmented areas are found by 16 weeks of age
    • (MGI Ref ID J:230572)
  • choroidal neovascularization
    • fluorescein angiography shows choroidal neovacularization with leakage, and newly formed vessels are evident by histology at 6 and 16 weeks of age, although retonograms show normal amplitudes at 16 weeks of age
    • (MGI Ref ID J:230572)

cardiovascular system phenotype

  • choroidal neovascularization
    • fluorescein angiography shows choroidal neovacularization with leakage, and newly formed vessels are evident by histology at 6 and 16 weeks of age, although retonograms show normal amplitudes at 16 weeks of age
    • (MGI Ref ID J:230572)

cellular phenotype

  • oligozoospermia
      (MGI Ref ID J:230572)
  • asthenozoospermia
      (MGI Ref ID J:230572)
  • kinked sperm flagellum
    • approximately 30 to 50% of mature spermatozoa have tails that are bent at the mid-piece
    • (MGI Ref ID J:230572)
  • decreased male germ cell number
    • although all meiotic stages are present in the seminiferous tubules, the number of maturing sperm cells is reduced in homozygotes by approximately 40%
    • (MGI Ref ID J:230572)

References

  • Johnson KR; Gagnon LH; Chang B. 2016. A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice. Mamm Genome 27(5-6):200-12PubMed: 27090238MGI: J:230572

Additional - Ap1g1fgt related

Technical Support

CONTACT TECHNICAL SUPPORT
  • Genotyping Protocols

    • Sanger sequencing:Ap1g1
    • Genotyping resources and troubleshooting
  • Breeding Considerations

    Although homozygous males have reduced fertility, they are generally adequate breeders to maintain a colony. Cryopreserved sperm from homozygous males has failed in in vitro fertilization efforts. Because the spinning of the homozygote can interfere with the rearing of the pups it is best to remove the homozygous male before birth and if homozygous females are used for breeding it is best to foster the pups.

    • Additional Breeding and Husbandry Support
  • Mating System

    • Heterozygote x Homozygote
  • Citation

    When using the C57BL/6-Ap1g1fgt/KjnBoc mouse strain in a publication, please cite the originating article(s) and include JAX stock #006487 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

Pricing & Availability

Availability Varies
  • Domestic
  • International

Live Mouse

Age Genotype Price
weeks

Breeder Pair

Sex Genotype Price
Female
Male

Cryorecovery - Pricing

Service/Product Description Price
Heterozygous or wildtype for Ap1g1<fgt>

Related Products and Services

Frozen Mouse EmbryoC57BL/6-Ap1g1<fgt>/KjnBoc $2595.00
Frozen Mouse EmbryoC57BL/6-Ap1g1<fgt>/KjnBoc $2595.00
Frozen Mouse EmbryoC57BL/6-Ap1g1<fgt>/KjnBoc $3373.50
Frozen Mouse EmbryoC57BL/6-Ap1g1<fgt>/KjnBoc $3373.50

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

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470
Email: TechTran@jax.org

Related Strains

  • All
  • By Allele
  • By Gene
  • By Collection
View All Strains
There are no related strains using this filter.
▲
  • Stock No: |
    Related By:
▼
FEEDBACK
Did you find what you were looking for?

What information were you hoping to find through your search?

How easy was it to find what you were looking for?

We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.

Please Enter a Valid Email Address

Skip

Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.