Description

Strain Information

Type Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Species laboratory mouse Generation F99p

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

Important Note
This strain is segregating for at and Grip1^eb, which are maintained in repulsion.

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).

Control Information

	Control
	? +/+ ? untested from colony
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Fraser Syndrome - Models with phenotypic similarity to human disease where etiologies are distinct.2

2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

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

Grip1^eb/Grip1^eb

        involves: ATEB/Le * C57BL/6J

• lethality-prenatal/perinatal
• perinatal lethality (MGI Ref ID J:64538)
  • mutants with aberrant neural tube development do not survive birth
• growth/size phenotype
• decreased body size (MGI Ref ID J:64538)
• vision/eye phenotype
• abnormal eye morphology (MGI Ref ID J:64538)
  • 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 cornea morphology (MGI Ref ID J:64538)
  • adult corneas are uneven in thickness
• abnormal corneal epithelium morphology (MGI Ref ID J:64538)
  • the corneal epithelium is often attached to the overlying lid and becomes folded and irregular in juveniles
  • adult corneal epithelium differs in thickness along any diameter across the cornea and the cells are irregularly shaped and accumulate at the limbus
• abnormal corneal stroma morphology (MGI Ref ID J:64538)
  • corneal stroma shows disorganized keratocytes and occasional acellularity in juveniles
• corneal opacity (MGI Ref ID J:64538)
  • adult corneas are cloudy
• abnormal eye development (MGI Ref ID J:64538)
  • blood-filled blisters develop over the eye starting at E11.5
• abnormal lens development (MGI Ref ID J:64538)
  • 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
• abnormal lens vesicle development (MGI Ref ID J:64538)
  • at E11.5, the eye cup forms normally but the lens vesicle does not always separate completely from the head ectoderm
• abnormal eyelid morphology (MGI Ref ID J:64538)
  • at E16.5, the eyelid is often not directly centered over the eyeball
• eyelids open at birth (MGI Ref ID J:64538)
  • eyelids fail to close and mutants are born with open eyes
  • eyelids are completely opened or only partially closed at E16.5
• abnormal iris morphology (MGI Ref ID J:64538)
  • iris is folded and irregular in shape and thickness in juveniles
• abnormal retina morphology (MGI Ref ID J:64538)
  • adults exhibit retinal folding
• aphakia (MGI Ref ID J:64538)
  • adults show a partial or absent lens
• cataracts (MGI Ref ID J:64538)
  • lenses appear cataractous during juvenile development
• microphthalmia (MGI Ref ID J:64538)
  • adults show varied eye size from normal to small
• cardiovascular system phenotype
• abnormal vasculature (MGI Ref ID J:64538)
  • exhibit increased vascularization throughout the developing eye and head region, starting at E11.5
• eye hemorrhage (MGI Ref ID J:64538)
  • the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris
• homeostasis/metabolism phenotype
• abnormal blood coagulation (MGI Ref ID J:64538)
  • blood accumulates readily in the eye and exhibits decreased clotting
• nervous system phenotype
• abnormal brain morphology (MGI Ref ID J:64538)
  • occasionally see clear fluid-filled blisters on the surface of the developing brain
• abnormal neural tube morphology/development (MGI Ref ID J:64538)
  • mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5
• open neural tube (MGI Ref ID J:64538)
  • mutants without obvious eye defects exhibit disruption of neural tube closure in the anterior and hindbrain neuropores and are born with open neural tubes
• renal/urinary system phenotype
• polycystic kidney (MGI Ref ID J:64538)
  • on rare occasions, kidneys are polycystic
• single kidney (MGI Ref ID J:64538)
  • on rare occasions, a kidney is missing

Grip1^eb/Grip1^eb

        involves: hairless stock

• vision/eye phenotype
• anophthalmia (MGI Ref ID J:13412)
  • 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
• microphthalmia (MGI Ref ID J:13412)
  • 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
• limbs/digits/tail phenotype
• abnormal limb morphology (MGI Ref ID J:12164)
  • a foot may be absent or distorted in direct correlation with the extent and location of the bleb
• absent limbs (MGI Ref ID J:12164)
  • a foot may be absent or distorted in direct correlation with the extent and location of the bleb
• clubfoot (MGI Ref ID J:13412)
  • 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot
• syndactyly (MGI Ref ID J:13412)
  • 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot
• interdigital webbing (MGI Ref ID J:13412)
  • 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot
• renal/urinary system phenotype
• absent kidney (MGI Ref ID J:13412)
  • 158 of 335 show small, missing, or cystic kidneys on one or both sides
• kidney cysts (MGI Ref ID J:13412)
  • 158 of 335 show small, missing, or cystic kidneys on one or both sides
• small kidney (MGI Ref ID J:13412)
  • 158 of 335 show small, missing, or cystic kidneys on one or both sides
• cardiovascular system phenotype
• hemorrhage (MGI Ref ID J:12164)
  • blisters become hemorrhagic during E13-14 and the hemorrhagic blebs show that small vessels have openings into the bleb
• skin/coat/nails phenotype
• bleb (MGI Ref ID J:12164)
  • 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

at/at

        involves: DBA/1oHu

• reproductive system phenotype
• abnormal gametogenesis (MGI Ref ID J:13446)
• decreased germ cell number (MGI Ref ID J:6193)
  • occassional undifferentiated germ cells are seen but uncommon
  • genital ridges are inadequately populated with germ cells
• decreased male germ cell number (MGI Ref ID J:13446)
  • great deficiency of primary spermatogonia
• decreased oocyte cell number (MGI Ref ID J:13446)
• abnormal seminiferous tubule morphology (MGI Ref ID J:6193)
  • entangled processes often obscure the luminal surfaces of the seminiferous tubules
  • normal complement and development of junctions, microtubules and microfilaments observed
  • Sertoli cell differentiation is normal
  • in the absence of germ cells,the apical (luminal) ends of the cells show a disorganized array of long processes
• infertility (MGI Ref ID J:13446)
• female infertility (MGI Ref ID J:13446)
• male infertility (MGI Ref ID J:13446)
• small gonad (MGI Ref ID J:13446)
  • observed in both sexes
• skin/coat/nails phenotype
• sparse hair (MGI Ref ID J:13446)
  • especially noticeable on the trunk
  • hair sparseness varies among mice but all homozygotes are distinguishable by 10 days of age
• endocrine/exocrine gland phenotype
• abnormal seminiferous tubule morphology (MGI Ref ID J:6193)
  • entangled processes often obscure the luminal surfaces of the seminiferous tubules
  • normal complement and development of junctions, microtubules and microfilaments observed
  • Sertoli cell differentiation is normal
  • in the absence of germ cells,the apical (luminal) ends of the cells show a disorganized array of long processes

View Research Applications

Research Applications

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

Grip1^eb related

Developmental Biology Research
Eye Defects
Internal/Organ Defects (kidney)
Skeletal Defects

Internal/Organ Research
Kidney Defects

Sensorineural Research
Eye Defects

at related

Dermatology Research
Skin and Hair Texture Defects

Reproductive Biology Research
Fertility Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Grip1eb
Allele Name		eye blebs
Allele Type		Spontaneous
Strain of Origin		hairless stock
Gene Symbol and Name		Grip1, glutamate receptor interacting protein 1
Chromosome		10
Gene Common Name(s)		4931400F03Rik; GRIP; RIKEN cDNA 4931400F03 gene; eb; eye blebs;
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. [MGI Ref ID J:88266]
Allele Symbol		at
Allele Name		atrichosis
Allele Type		Spontaneous
Strain of Origin		DBA/1oHu
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).

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

Handel MA; Eppig JJ. 1979. Sertoli cell differentiation in the testes of mice genetically deficient in germ cells. Biol Reprod 20(5):1031-8. [PubMed: 476239]  [MGI Ref ID 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):1400-8. [PubMed: 11319144]  [MGI Ref ID 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):21-7. [PubMed: 10974668]  [MGI Ref ID J:64538]

Grip1^eb related

Beasley AB; Crutchfield FL. 1969. Development of a mutant with abnormalities of the eye and extremities. Anat Rec 163:293 (Abstr.).  [MGI Ref ID J:12164]

Chapman DB; Hummel KP. 1963. Eye blebs (eb) Mouse News Lett 28:32.  [MGI Ref ID J:13412]

Kiyozumi D; Sugimoto N; Sekiguchi K. 2006. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc Natl Acad Sci U S A 103(32):11981-6. [PubMed: 16880404]  [MGI Ref ID J:111788]

Swiergiel JJ; Funderburgh JL; Justice MJ; Conrad GW. 2000. Developmental eye and neural tube defects in the eye blebs mouse. Dev Dyn 219(1):21-7. [PubMed: 10974668]  [MGI Ref ID J:64538]

Takamiya K; Kostourou V; Adams S; Jadeja S; Chalepakis G; Scambler PJ; Huganir RL; Adams RH. 2004. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet 36(2):172-7. [PubMed: 14730302]  [MGI Ref ID J:88266]

at related

Handel MA; Eppig JJ. 1979. Sertoli cell differentiation in the testes of mice genetically deficient in germ cells. Biol Reprod 20(5):1031-8. [PubMed: 476239]  [MGI Ref ID J:6193]

Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386]  [MGI Ref ID J:25255]

Hummel KP. 1966. Atrichosis Mouse News Lett 34:31.  [MGI Ref ID J:13446]

Hummel KP; Chapman DB. 1971. Atrichosis (at) appears to be closely linked with eyeblebs (eb) Mouse News Lett 45:29.  [MGI Ref ID J:23535]

Sundberg JP (ed.). 1994. . In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Winer MA; Wolgemuth DJ. 1995. The segment-specific pattern of a-raf expression in the mouse epididymis is regulated by testicular factors. Endocrinology 136(6):2561-2572. [PubMed: 7750478]  [MGI Ref ID J:25939]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

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.
Important Note	This strain is segregating for at and Grip1eb, which are maintained in repulsion.

Control Information

	Control
	? +/+ ? untested from 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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Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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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.

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