Overview

Also Known As:Atrichosis Eye Blebs

This inbred segregating mutant strain carries the atrichosis (at) and eye blebs (Grip1^eb) spontaneous mutations in repulsion and is homozygous for dilute (Myo5a^d).

Genetic overview

Genetic Background	Generation

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Research Applications

Dermatology Research
Reproductive Biology Research
Developmental Biology Research
Internal/Organ Research
Sensorineural Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is segregating for at and Grip1^eb, which are maintained in repulsion. Mice homozygous for both at and Grip1^eb do not survive.

Detailed Description

Mice homozygous for the atrichosis spontaneous mutation (at) are characterized by sparsely distributed hair, especially on the trunk. The amount of hair varies, but affected mice can be easily recognized at 8 to 10 days old. Both sexes are sterile and have very small gonads with few germ cells. There is a great deficiency of primary spermatogonia in the testes. A quantitative study of maturation of ovarian oocytes showed that the proportion of resident oocytes recruited into the first wave of growth was much higher than in phenotypically normal heterozygous controls (J.J. Eppig, personal communication). This strain is also segregating for the eye blebs spontaneous mutation (Grip1^eb).

Development

Embryos produced by sib matings of males heterozygous for at and Grip1^eb to females that were either heterozygous or wild-type for at and Grip1^eb were cryopreserved in 2006.

Control Suggestions

? +/+ ? untested from colony

Additional Information

Considerations for Choosing Controls

Genetics

at

Allele Symbol: at

Allele Name	atrichosis
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	at, atrichosis
Gene Synonym(s)
Strain of Origin	DBA/1oHu
Chromosome	10
General Note	A quantitative study of maturation of oocytes in the ovary of homozygous at/at mice showed that the proportion of resident oocytes recruited into the first wave of growth was much higher than in normal heterozygous controls (JJ Eppig, personal communication).

Grip1^eb

Allele Symbol: Grip1^eb

Allele Name	eye blebs
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Grip1, glutamate receptor interacting protein 1
Gene Synonym(s)
Strain of Origin	hairless stock
Chromosome	10
General Note	Arose in a non-inbred stock of hairless mice. It resembles the mutant my, but is not allelic to it.
Molecular Note	Deletion of exons 10 and 11.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Fraser syndrome

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

clubfoot

Research Areas By Phenotype

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

Genotype: at related

Dermatology Research
- Skin and Hair Texture Defects
Reproductive Biology Research
- Fertility Defects

Genotype: Grip1^eb related

Developmental Biology Research
- Eye Defects
- Skeletal Defects
- Internal/Organ Defects
  - kidney
Internal/Organ Research
- Kidney Defects
Sensorineural Research
- Eye 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: at/at
involves: DBA/1oHu

cellular phenotype

abnormal oocyte number
- a quantitative study of oocyte maturation shows that the proportion of resident oocytes recruited into the first wave of oocyte growth is much higher than seen in heterozygous controls

decreased male germ cell number
- mutant testes are virtually devoid of germ cells
- occassional undifferentiated germ cells are observed but uncommon

decreased oocyte number

endocrine/exocrine gland phenotype

small ovary

small testis

abnormal seminiferous tubule morphology
- Normal - however, prepubertal testes of mutant mice show normal maturation of Sertoli cells, with no significant differences in the differentiation of the tripartite nucleolus, the Sertoli cell junctions and mitochondria relative to control mice
- these long processes are entangled and often obscure the unstructured luminal surface of seminiferous tubules
- in the absence of germ cells, the apical (luminal) ends of Sertoli cells show a disorganized array of long processes

integument phenotype

sparse hair
- homozygotes exhibit sparsely distributed hair, especially noticeable on the trunk
- Normal - notably, vibrissae are not affected
- hair sparseness varies among individuals but all homozygotes are readily distinguishable from wild-type littermates at 8-10 days of age

reproductive system phenotype

decreased male germ cell number
- mutant testes are virtually devoid of germ cells
- occassional undifferentiated germ cells are observed but uncommon

female infertility

male infertility

abnormal seminiferous tubule morphology
- in the absence of germ cells, the apical (luminal) ends of Sertoli cells show a disorganized array of long processes
- these long processes are entangled and often obscure the unstructured luminal surface of seminiferous tubules
- Normal - however, prepubertal testes of mutant mice show normal maturation of Sertoli cells, with no significant differences in the differentiation of the tripartite nucleolus, the Sertoli cell junctions and mitochondria relative to control mice

small gonad
- significant size reduction of gonads in both sexes

small ovary

abnormal oocyte number
- a quantitative study of oocyte maturation shows that the proportion of resident oocytes recruited into the first wave of oocyte growth is much higher than seen in heterozygous controls

small testis

decreased oocyte number

infertility
- homozygotes of both sexes are sterile

embryo phenotype

abnormal gonadal ridge morphology
- genital ridges are inadequately populated with germ cells

Genotype: Grip1^eb/Grip1^eb
involves: hairless stock

cardiovascular system phenotype

hemorrhage
- blisters become hemorrhagic during E13-14 and the hemorrhagic blebs show that small vessels have openings into the bleb

vision/eye phenotype

anophthalmia
- the eye-bulb is absent or very small when a large bleb is present
- 258 of 335 show anophthalmia or microphthalmia on one or both sides

microphthalmia
- 258 of 335 show anophthalmia or microphthalmia on one or both sides
- the eye-bulb is absent or very small when a large bleb is present or only slightly reduced in size as a result of a small ruptured bleb

integument phenotype

bleb
- clear blisters of fluid appear in the hypodermis of the eyelids and the apical areas of the limbs during E12-13
- blisters/blebs enlarge and become hemorrhagic during E13-14 and persist during the intrauterine period but rupture soon after birth

limbs/digits/tail phenotype

syndactyly
- 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot

clubfoot
- 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot

interdigital webbing
- 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot

absent limbs
- a foot may be absent or distorted in direct correlation with the extent and location of the bleb

abnormal limb morphology
- a foot may be absent or distorted in direct correlation with the extent and location of the bleb

renal/urinary system phenotype

absent kidney
- 158 of 335 show small, missing, or cystic kidneys on one or both sides

kidney cysts
- 158 of 335 show small, missing, or cystic kidneys on one or both sides

small kidney
- 158 of 335 show small, missing, or cystic kidneys on one or both sides

Genotype: Grip1^eb/Grip1^eb
involves: ATEB/Le * C57BL/6J

cardiovascular system phenotype

abnormal blood vessel morphology
- exhibit increased vascularization throughout the developing eye and head region, starting at E11.5

eye hemorrhage
- the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris

renal/urinary system phenotype

polycystic kidney
- on rare occasions, kidneys are polycystic

single kidney
- on rare occasions, a kidney is missing

vision/eye phenotype

abnormal corneal epithelium morphology
- adult corneal epithelium differs in thickness along any diameter across the cornea and the cells are irregularly shaped and accumulate at the limbus
- the corneal epithelium is often attached to the overlying lid and becomes folded and irregular in juveniles

abnormal iris morphology
- iris is folded and irregular in shape and thickness in juveniles

abnormal eye morphology
- mutants exhibiting the eye phenotypes do not exhibit neural tube defects
- eyes beneath the closed lids are covered with a tough connective tissue layer
- observe accumulation of clear fluid and cell debris in the orbit beneath the closed eyelid after birth such that the shape of the face is distorted

abnormal lens development
- the lens is often smooth, unencapsulated with no apparent nucleus, and has no obvious anterior chamber at E16.5
- juveniles show incompletely detached lenses from the surface ectoderm which begin to degenerate and become irregularly shaped, polycystic, cataractous, vacuolated, disorganized, and often bisected by part of the iris

eye hemorrhage
- the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris

microphthalmia
- adults show varied eye size from normal to small

aphakia
- adults show a partial or absent lens

cataract
- lenses appear cataractous during juvenile development

corneal opacity
- adult corneas are cloudy

eyelids open at birth
- eyelids fail to close and mutants are born with open eyes
- eyelids are completely opened or only partially closed at E16.5

abnormal cornea thickness
- adult corneas are uneven in thickness

abnormal lens vesicle development
- at E11.5, the eye cup forms normally but the lens vesicle does not always separate completely from the head ectoderm

abnormal retina morphology
- adults exhibit retinal folding

abnormal corneal stroma morphology
- corneal stroma shows disorganized keratocytes and occasional acellularity in juveniles

abnormal eyelid morphology
- at E16.5, the eyelid is often not directly centered over the eyeball

abnormal eye development
- blood-filled blisters develop over the eye starting at E11.5

embryo phenotype

abnormal neural tube morphology
- mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5

open neural tube
- mutants without obvious eye defects exhibit disruption of neural tube closure in the anterior and hindbrain neuropores and are born with open neural tubes

growth/size/body region phenotype

decreased body size

homeostasis/metabolism phenotype

abnormal blood coagulation
- blood accumulates readily in the eye and exhibits decreased clotting

mortality/aging

perinatal lethality, incomplete penetrance
- mutants with aberrant neural tube development do not survive birth

nervous system phenotype

abnormal brain morphology
- occasionally see clear fluid-filled blisters on the surface of the developing brain

abnormal neural tube morphology
- mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5

open neural tube
- mutants without obvious eye defects exhibit disruption of neural tube closure in the anterior and hindbrain neuropores and are born with open neural tubes

Phenotype Information

References

Additional References

Handel MA; Eppig JJ. 1979. Sertoli cell differentiation in the testes of mice genetically deficient in germ cells. Biol Reprod 20(5):1031-8PubMed: 476239 MGI: J:6193
Matt Kim J; McGaughy JT; Kent Bogle R; Ravnik SE. 2001. Meiotic expression of the cyclin h/cdk7 complex in male germ cells of the mouse. Biol Reprod 64(5):1400-8PubMed: 11319144 MGI: J:69035
Swiergiel JJ; Funderburgh JL; Justice MJ; Conrad GW. 2000. Developmental eye and neural tube defects in the eye blebs mouse. Dev Dyn 219(1):21-7PubMed: 10974668 MGI: J:64538

Additional - at related

Additional - Grip1^eb related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- dilute grey, sparse fur
  Related Genotype: a/a Myo5a^d/Myo5a^d at ?/at +
  
  dilute grey, unaffected
  Related Genotype: a/a Myo5a^d/Myo5a^d ? +/+ ? or or a/a Myo5a^d/Myo5a^d at +/+ Grip1^eb
  
  dilute grey, with defects in eyes or feet
  Related Genotype: a/a Myo5a^d/Myo5a^d ? Grip1^eb/+ Grip1^eb
Citation
When using the ATEB/LeJ mouse strain in a publication, please include JAX stock #000277 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
> >	Homozygous for a, Homozygous for Myo5a<d>, Genes in Repulsion: Heterozygous for or wildtype for at and eb

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:Atrichosis Eye Blebs

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

at

Allele Symbol: at

Grip1eb

Allele Symbol: Grip1eb

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: at related

Genotype: Grip1eb related

Mammalian Phenotype Terms by Genotype

Genotype: at/atinvolves: DBA/1oHu

cellular phenotype

endocrine/exocrine gland phenotype

integument phenotype

reproductive system phenotype

embryo phenotype

Genotype: Grip1eb/Grip1ebinvolves: hairless stock

cardiovascular system phenotype

vision/eye phenotype

integument phenotype

limbs/digits/tail phenotype

renal/urinary system phenotype

Genotype: Grip1eb/Grip1ebinvolves: ATEB/Le * C57BL/6J

cardiovascular system phenotype

renal/urinary system phenotype

vision/eye phenotype

embryo phenotype

growth/size/body region phenotype

homeostasis/metabolism phenotype

mortality/aging

nervous system phenotype

Phenotype Information

References

Additional References

Additional - at related

Additional - Grip1eb related

Genotyping Protocols

Appearance

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

Grip1^eb

Allele Symbol: Grip1^eb

Genotype: Grip1^eb related

Genotype: at/at
involves: DBA/1oHu

Genotype: Grip1^eb/Grip1^eb
involves: hairless stock

Genotype: Grip1^eb/Grip1^eb
involves: ATEB/Le * C57BL/6J

Additional - Grip1^eb related