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Strain Name:

B6.Cg-Atp7aMo-blo/J

Stock Number:

000535

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Genes & Alleles   Atp7a;   Atp7aMo-blo;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain Oak Ridge stock
GenerationN27p

Strain Description
Female mice heterozygous for the blotchy alleles (Atp7aMo-blo) are viable and fertile. They have irregular patches of light-colored fur. Hemizygous males and homozygous females have reduced viability and many are infertile. Hemizygotes and homozygotes are light all over with no blotching, are usually small, and occasionally have deformed hindlegs. Most hemizygotes and homozygotes have defective elastin in the aorta and usually die with aortic aneurysm. Hemizygous males have enlarged air spaces in the lung (emphysema), probably because of defective elastin and collagen. Skin collagen and aortic elastin have defective crosslinking at the step at which lysine residues are converted to aldehydes. Hemizygous males have a deficiency of noradrenalin in the brain, probably because a deficiency of copper shown to exist in the brain causes defective activity of the enzyme dopamine-beta-hydroxylase. Copper absorption from the gut and hepatic copper concentration are reduced to 64% and 56% of normal, respectively.

Mammalian Phenotype Terms assigned by genotype

Atp7aMo-blo/Y

        B6.Cg-Atp7aMo-blo/J
  • skeleton phenotype
  • abnormal cartilage morphology (MGI Ref ID J:36378)
    • 2 month-old mice show decreased collagen crosslinks in cartilage compared to wild-type
    • lesions such as defects in cartilage integrity are observed in joints at 10 months of age
  • osteoarthritis (MGI Ref ID J:36378)
    • at 2-4 months of age, femoral-tibial joints show structural and cellular changes correlating with mild to moderate osteoarthritis; changes increase in severity with age
    • at 10 months, loss of integrity of weight bearing regions of the joints is detected, with cellular changes including cloning and cell loss
  • immune system phenotype
  • osteoarthritis (MGI Ref ID J:36378)
    • at 2-4 months of age, femoral-tibial joints show structural and cellular changes correlating with mild to moderate osteoarthritis; changes increase in severity with age
    • at 10 months, loss of integrity of weight bearing regions of the joints is detected, with cellular changes including cloning and cell loss
  • cellular phenotype
  • oxidative stress (MGI Ref ID J:105736)
    • vascular superoxide anion production is increased in all layers of aortas in mutants compared to controls

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

Atp7aMo-blo/Atp7a+

        Background Not Specified
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:13383)
    • usually smaller than wild-type
    • cachexia (MGI Ref ID J:5516)
      • prior to death
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:13383)
    • females have irregular patches of dilute-color (pale) fur; expression of dilution is poor in some up to weaning age, but is complete in adults
  • skin/coat/nails phenotype
  • coarse hair (MGI Ref ID J:5516)
    • mutants have thin rough coats
  • diluted coat color (MGI Ref ID J:13383)
    • females have irregular patches of dilute-color (pale) fur; expression of dilution is poor in some up to weaning age, but is complete in adults
  • touch/vibrissae phenotype
  • curly vibrissae (MGI Ref ID J:13383)
    • whiskers are curly at birth but straighten by weaning age
  • limbs/digits/tail phenotype
  • abnormal hindlimb morphology (MGI Ref ID J:13383)
    • occasionally hindlimbs are deformed
  • reproductive system phenotype
  • *normal* reproductive system phenotype (MGI Ref ID J:13383)
    • viability and fertility are normal
  • behavior/neurological phenotype
  • hunched posture (MGI Ref ID J:5516)
  • lethargy (MGI Ref ID J:5516)
    • prior to death
  • cardiovascular system phenotype
  • abnormal aorta morphology (MGI Ref ID J:5516)
    • uniform dilatation of aorta to level of superior mesenteric artery is frequently observed
    • kink in distal part of descending aorta is commonly observed; in some animals, seen at 15 days of age
    • at 21 days of age, degenerative changes are seen in elastic fibers of tunica media; lesions include irregular fiber thickness, vacuolation, and fragmentation (grade II lesions)
    • abnormal aorta elastic fiber morphology (MGI Ref ID J:5516)
      • at 21 days of age, degenerative changes are seen in elastic fibers of tunica media; lesions include irregular fiber thickness, vacuolation, and fragmentation (grade II lesions)
      • decreased aorta elastin content (MGI Ref ID J:5516)
        • in grades II-IV lesions, aorta elastic fiber fibers show increasing vacuolation and fragmentation; in grade V lesions elastic fibers are absent
    • aortic aneurysm (MGI Ref ID J:5516)
      • one or more spontaneous aneurysms can be identified; majority are fusiform or saccular, most commonly on the aortic arch or proximal part of descending aorta
      • 32% of mutants display aortic aneurysms and 5% show S-shaped lesions (lesions/aneurysms involve the thoracic and abdominal aorta and its branches)
  • aneurysm (MGI Ref ID J:5516)
    • aneurysms may also occur at level of diaphragmatic hiatus
    • aortic aneurysm (MGI Ref ID J:5516)
      • one or more spontaneous aneurysms can be identified; majority are fusiform or saccular, most commonly on the aortic arch or proximal part of descending aorta
      • 32% of mutants display aortic aneurysms and 5% show S-shaped lesions (lesions/aneurysms involve the thoracic and abdominal aorta and its branches)
  • hemoperitoneum (MGI Ref ID J:5516)
    • seen in several pregnant females
  • hemothorax (MGI Ref ID J:5516)
    • at time of death, many animals exhibit bilateral hemothorax
  • respiratory system phenotype
  • hemothorax (MGI Ref ID J:5516)
    • at time of death, many animals exhibit bilateral hemothorax

Atp7aMo-blo/Atp7aMo-blo

        Background Not Specified
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:13383)
    • mice have reduced viability
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:13383)
    • usually smaller than wild-type
  • cardiovascular system phenotype
  • aortic aneurysm (MGI Ref ID J:5397)
    • 85% of mutants display aortic aneurysms (S-shaped or saccular involving the thoracic and abdominal aorta and its branches)
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:13383)
    • homozygous mice are light-colored all over
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:13383)
    • homozygous mice are light-colored all over
  • touch/vibrissae phenotype
  • curly vibrissae (MGI Ref ID J:13383)
    • whiskers are curly at birth but straighten by weaning age
  • reproductive system phenotype
  • female infertility (MGI Ref ID J:13383)
    • many homozygotes are sterile
  • limbs/digits/tail phenotype
  • abnormal hindlimb morphology (MGI Ref ID J:13383)
    • occasionally hindlimbs are deformed

Atp7aMo-blo/Y

        Background Not Specified
  • life span-post-weaning/aging
  • *normal* life span-post-weaning/aging (MGI Ref ID J:38977)
    • hemizygous males are viable at birth
    • premature death (MGI Ref ID J:13383)
      • mice have reduced viability after birth
  • cardiovascular system phenotype
  • abnormal aorta morphology (MGI Ref ID J:15796)
    • at 18-19 weeks, external diameter of ascending aorta is twice that of wild-type male littermates
    • histologic changes are detected by 21 days of age in some males, prior to visible aneurysm
    • histologically, disrupted and wavy lamellae are observed and these structures have irregular surfaces; interlamellar spaces are thickened
    • smooth muscle cells are large and pleomorphic
    • uniform dilatation of aorta to level of superior mesenteric artery is frequently observed
    • kink in distal part of descending aorta is commonly observed; in some animals, seen at 15 days of age
    • at 21 days of age, degenerative changes are seen in elastic fibers of tunica media; lesions include irregular fiber thickness, vacuolation, and fragmentation (grade II lesions)
    • without obvious aneurysm, aorta dry weight is significantly greater than control; in aneurismal aortas, dry weight is >3-fold greater than controls
    • in areas of aneurysm, tissue is largely made up of collagen, whereas normal tissue is mainly collagen and elastin
    • abnormal aorta elastic fiber morphology (MGI Ref ID J:5516)
      • at 21 days of age, degenerative changes are seen in elastic fibers of tunica media; lesions include irregular fiber thickness, vacuolation, and fragmentation (grade II lesions)
      • decreased aorta elastin content (MGI Ref ID J:5516)
        • in grades II-IV lesions, aorta elastic fiber fibers show increasing vacuolation and fragmentation; in grade V lesions elastic fibers are absent
    • aortic aneurysm (MGI Ref ID J:15796)
      • by 6 months of age, all male hemizygotes display aortic aneurysms; aneurysms occur mainly in ascending thoracic aorta with some found in the descending or abdominal aorta
      • one or more spontaneous aneurysms can be identified; majority are fusiform or saccular, most commonly on the aortic arch or proximal part of descending aorta
      • 93% of males display aortic aneurysms
  • aneurysm (MGI Ref ID J:5516)
    • aneurysms may also occur at level of diaphragmatic hiatus
    • aortic aneurysm (MGI Ref ID J:15796)
      • by 6 months of age, all male hemizygotes display aortic aneurysms; aneurysms occur mainly in ascending thoracic aorta with some found in the descending or abdominal aorta
      • one or more spontaneous aneurysms can be identified; majority are fusiform or saccular, most commonly on the aortic arch or proximal part of descending aorta
      • 93% of males display aortic aneurysms
  • hemothorax (MGI Ref ID J:5516)
    • at time of death, many animals exhibit bilateral hemothorax
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:15796)
    • male hemizygotes are distinguished based on pale coat color in contrast to normal black-colored littermates
    • hemizygotes surviving beyond birth have severe dilution in hair pigment
    • hemizygous males are light-colored all over
  • skin/coat/nails phenotype
  • coarse hair (MGI Ref ID J:5516)
    • mutants have thin rough coats
  • diluted coat color (MGI Ref ID J:15796)
    • male hemizygotes are distinguished based on pale coat color in contrast to normal black-colored littermates
    • hemizygotes surviving beyond birth have severe dilution in hair pigment
    • hemizygous males are light-colored all over
  • behavior/neurological phenotype
  • hunched posture (MGI Ref ID J:5516)
  • hypoactivity (MGI Ref ID J:5462)
    • males display general inactivity
  • lethargy (MGI Ref ID J:5516)
    • prior to death
  • tremors (MGI Ref ID J:5462)
    • mild sustained tremor is observed in mutants
  • homeostasis/metabolism phenotype
  • abnormal noradrenaline level (MGI Ref ID J:5462)
    • brain levels are reduced by 30% compared to wild-type males
  • reproductive system phenotype
  • male infertility (MGI Ref ID J:13383)
    • many males are sterile
  • priapism (MGI Ref ID J:5516)
    • occasional males display priapism with balanoposthitis
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:13383)
    • usually smaller than wild-type
    • cachexia (MGI Ref ID J:5516)
      • prior to death
  • limbs/digits/tail phenotype
  • abnormal hindlimb morphology (MGI Ref ID J:13383)
    • occasionally hindlimbs are deformed
  • touch/vibrissae phenotype
  • curly vibrissae (MGI Ref ID J:13383)
    • whiskers are curly at birth but straighten by weaning age
  • respiratory system phenotype
  • hemothorax (MGI Ref ID J:5516)
    • at time of death, many animals exhibit bilateral hemothorax

Atp7aMo-blo/Y

        Background Not Specified
  • homeostasis/metabolism phenotype
  • abnormal enzyme/coenzyme activity (MGI Ref ID J:5880)
    • lysyl oxidase activity in lungs is significantly decreased compared to wild type; levels are nearly undetectable in some lungs
    • lysyl oxidase activity in lung fibroblasts in culture is reduced to about 42% of that in wild-type cells
  • cellular phenotype
  • abnormal cell content/ morphology (MGI Ref ID J:5880)
    • initially in culture, cells are less ordered than wild-type and exhibit large empty areas between cells; after prolonged culture, cells display similar morphology to wild-type

Atp7aMo-blo/Y

        involves: C57BL/10
  • respiratory system phenotype
  • abnormal lung morphology (MGI Ref ID J:5664)
    • lungs show generalized enlargement of airspaces
    • internal surface area of inflated lungs is lower than controls in adult males
    • abnormal respiratory alveolar duct morphology (MGI Ref ID J:5664)
      • alveolar ducts show generalized dilatation at birth
    • abnormal respiratory alveoli morphology (MGI Ref ID J:5664)
      • alveoli are shallow with shortened (or absent) alveolar septa in some regions, surrounding regions of relatively normal architecture
    • enlarged lung (MGI Ref ID J:5664)
      • at 12 hours after birth, newborn lungs are grossly larger than wild-type littermates, with enlarged airspaces; lung volumes are significantly larger than controls
  • abnormal respiratory system physiology (MGI Ref ID J:5664)
    • lungs show reduced specific static recoil pressures at various lung volumes during deflation compared to controls lungs; with air inflation, elastic recoil pressures are significantly lower over th 50-90% total lung compliance range
    • abnormal breathing (MGI Ref ID J:5664)
      • at rest, adults breathe as if the airways are obstructed, with prolonged expiratory phase and prominent chest wall effort
    • abnormal lung compliance (MGI Ref ID J:5664)
      • adult mutants have increased lung compliance (30-70% higher) and increased specific compliance
    • abnormal total lung capacity (MGI Ref ID J:5664)
      • adult mutants have increased total lung capacity relative to controls

Gene & Allele Details

Allele Symbol Atp7aMo-blo
Allele Name blotchy
Common Name(s) Blo; Moblo;
Gene Symbol and Name Atp7a, ATPase, Cu++ transporting, alpha polypeptide
Chromosome X
Gene Common Name(s) Blo; FLJ17790; MK; MNK; Menkes protein; Mo; blotchy; br; mottled;
Molecular Note The mutation is an A-to-C transversion in postition +3 of the intron 11 splice donor. Trancripts derived from this allele are often misspliced and either skip exon 11 or use a cryptic splice site further downstream from the correct splice site. Some normal transcript is also expressed. Western blot and activity analysis demonstrated that only greatly reduced levels of normal sized, but nonfunctional, protein was made. [MGI Ref ID J:17492] [MGI Ref ID J:17493] [MGI Ref ID J:23118] [MGI Ref ID J:38977]

Related Strains

Strains carrying   Atp7aMo-blo allele
002044   B6Ei.Cg-Atp7aMo-blo/J
View Strains carrying   Atp7aMo-blo     (1 strain)

Strains carrying other alleles of Atp7a
001381   B6.Cg-Atp7aMo-pew2J/J
000053   B6.Cg-Atp7aMo-to/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
002566   C57BL/6-Atp7aMo-br/J
000813   CBA/J-Atp7aMo-pew/J
000623   TR/DiEiJ
View Strains carrying other alleles of Atp7a     (6 strains)

Additional Web Information

Congenic Nomenclature

Research Applications

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

Atp7aMo-blo related

Cardiovascular Research
Heart Abnormalities (aortic aneurysms)

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Defects in Extracellular Matrix Molecules

Internal/Organ Research
Heart Abnormalities (aortic aneurysms)

Metabolism Research

Mouse/Human Gene Homologs
Menkes syndrome

Neurobiology Research
Ataxia (Movement) Defects
Metabolic Defects
Tremor Defects

References

Additional References

Price and Supply Information

Strain Name: B6.Cg-Atp7aMo-blo/J
Stock Number: 000535

Price Details

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Supply Details

Standard SupplyRepository-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; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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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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