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Strain Name: |
B6C3Fe a/a-Edaraddcr/J |
Stock Number: |
000207 |
Availability:
| Repository-Cryopreserved |
| Former Name |
B6C3Fe-a/a-Edaraddcr (Changed: 15-DEC-04
)
|
| Genes & Alleles |
Edaradd;
Edaraddcr;
a;
|
Product Information
Strain Details
| Type |
JAX® GEMM® Strain -
Mutant Stock |
| Additional information on
JAX® GEMM® Strains. |
| Mating System | Outcross-Intercross
(Female x Male) |
|---|
| TJL Breeding Summary: homozyogote x B6C3Fe a/a F1 then obligate heterozygote x heterozygote |
| Species | laboratory mouse |
| Generation | N34p
|
|
|
Appearance
black
Related Genotype: a/a Edaraddcr/+ or a/a +/?
black, aberrent coat and teeth
Related Genotype: a/a Edaraddcr/Edaraddcr
Mammalian Phenotype Terms assigned by genotype
Edaraddcr/Edaraddcr
B6C3Fe a/a-Edaraddcr/J
- behavior/neurological phenotype
- abnormal involuntary movement
(MGI Ref ID J:5870)
- mutants twirl in the air when picked up by their tails; variable penetrance
- homeostasis/metabolism phenotype
- *normal* homeostasis/metabolism phenotype
(MGI Ref ID J:29151)
- no aberrant bleeding time after tail vein nick
- abnormal lipid level
(MGI Ref ID J:5870)
- sulfatides are increased in P21 mutant brains, however levels are normal at 17 months of age
- at 17 months of age, cerebroside levels are higher and cholesterol esters are found in brains
- nervous system phenotype
- abnormal brain morphology
(MGI Ref ID J:5870)
- 33% have grossly malformed brains at P21
- brains contain increased levels of sulfatides at P21 but not at older ages and increased cerebroside and cholesterl ester levels in older mice
- abnormal cerebellum morphology
(MGI Ref ID J:5870)
- abnormalities of the cerebellum include abnormal shape and cavitation
- many mutants exhibit an abnormal lateral fissure parallel to the median cerebral fissure
- abnormal cerebellar cortex morphology
(MGI Ref ID J:5870)
- all layers of the cerebellar cortex are disorganized
- Purkinje cell degeneration
(MGI Ref ID J:5870)
- two mutants show pyknosis and loss of some Purkinje cells
- small cerebellum
(MGI Ref ID J:5870)
- demyelination
(MGI Ref ID J:5870)
- in myelinated areas, especially in the cerebellum, holes are present which seem to be the result of swollen myelin sheaths and the disarranged myelin appears in patches, not diffusely
- presence of cholesterol esters in the brain indicates demyelination
- reproductive system phenotype
- reduced fertility
(MGI Ref ID J:5870)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Edaraddcr/Edaraddcr
Background
Not Specified
- lethality-postnatal
- postnatal lethality
(MGI Ref ID J:13040)
- 40% die before 10 days of age
- life span-post-weaning/aging
- premature death
(MGI Ref ID J:13040)
- mortality increases slightly up to the time of weaning and is very high the week after weaning
- growth/size phenotype
- decreased body weight
(MGI Ref ID J:13040)
- already at birth, mutants are 5% lighter than controls; 20-30% lighter at 3 weeks
- postnatal growth retardation
(MGI Ref ID J:13040)
- craniofacial phenotype
- abnormal outer ear morphology
(MGI Ref ID J:13040)
- at about 10-15 days of age, the ears are folded in a peculiar way and the pinnae appear to be drawn up toward the mid-dorsal line
- abnormal tooth morphology
(MGI Ref ID J:12999)
- abnormal enamel morphology
(MGI Ref ID J:12999)
- incisors are more widely covered with enamel, even if normal sized
- abnormal incisor morphology
(MGI Ref ID J:12999)
- incisors may be smaller and sometimes an incisor is lost
- abnormal molar crown morphology
(MGI Ref ID J:12999)
- cusps of all molars are reduced but the pattern is different from that seen in homozygous Lrp6Cd mutants
- decreased molar number
(MGI Ref ID J:12999)
- third molars are sometimes absent
- small molars
(MGI Ref ID J:12999)
- reduction of molars tends to be more extreme in the first than in the second and third molars
- limbs/digits/tail phenotype
- kinked tail
(MGI Ref ID J:64273)
- tail has sharp flexures near the tip
- young mice (5-14 days) have kinks or undulations along more than half the length of the tail; as mice age, the kinks straighten out and are confined to the extreme tip
- skin/coat/nails phenotype
- abnormal coat/ hair morphology
(MGI Ref ID J:13040)
- absence of 2 or 3 of the 5 sensory hairs on each side of the face; lack the hair situated behind the eye, one of the two near the angle of the jaw, and one of the two above the eye
- abnormal coat color
(MGI Ref ID J:13040)
- color pattern of agouti is modified; the back is blacker, the flanks are yellower than normal
- abnormal hair follicle development
(MGI Ref ID J:13040)
- formation of new hair follicles is suppressed between E12.5 and E17, and again from the time of birth onwards
- the growth rate of those follicles that do form is slowed
- first period of follicle suppression accounts for the absence of guard hairs and the second period for the absence of zigzags
- sensory hair follicles are sometimes poorly developed; the first stage of the development of the post-orbital sinus follicle is normal, however after E12.5, further development is inhibited and the follicle regresses
- abnormal hair growth
(MGI Ref ID J:13040)
- delayed hair appearance
(MGI Ref ID J:13040)
- growth of hair follicles is slower and the appearance of hair rudiments is delayed by about 2 days
- sinus follicles that do form, grow more slowly and their hairs erupt later than in wild type
- localized bare skin
(MGI Ref ID J:13040)
- no hair on tail or behind ears
- loss of cilia
(MGI Ref ID J:13040)
- reduced number of eyelashes, with both the longest and shortest lashes absent
- short hair
(MGI Ref ID J:13040)
- hairs on the pinna are shorter and thinner
- sparse hair
(MGI Ref ID J:13040)
- abnormal hair texture
(MGI Ref ID J:13040)
- coat is thin and has an abnormal texture which makes it look ungroomed
- abnormal hair types
(MGI Ref ID J:13040)
- mutants contain only one type of hair resembling an abnormal awl; the number of rows of air-cells is not constant throughout the length of each hair and the diameter of the hair varies, regions with two rows of cells alternate with narrower regions having only one row and with broader regions having three rows
- absent guard hair
(MGI Ref ID J:13040)
- lack guard hairs in the adult coat
- absent zigzag hairs
(MGI Ref ID J:13040)
- lack zigzag hairs in the adult coat
- decreased hair follicle number
(MGI Ref ID J:13040)
- the supra-orbital tubercle contains only one follicle instead of two as in wild type at E13.5
- abnormal skin morphology
(MGI Ref ID J:13040)
- absent meibomian glands
(MGI Ref ID J:13040)
- thin dermal layer
(MGI Ref ID J:13040)
- abnormal skin pigmentation
(MGI Ref ID J:13040)
- delay in skin pigmentation due to delayed hair formation (by about 2 days)
- thin skin
(MGI Ref ID J:13040)
- thin skin is seen soon after birth and persists throughout life
- pigmentation phenotype
- abnormal coat color
(MGI Ref ID J:13040)
- color pattern of agouti is modified; the back is blacker, the flanks are yellower than normal
- abnormal skin pigmentation
(MGI Ref ID J:13040)
- delay in skin pigmentation due to delayed hair formation (by about 2 days)
- respiratory system phenotype
- abnormal respiration
(MGI Ref ID J:64273)
- frequently exhibit respiratory disorders
- respiratory disorder is characterized by snuffling and is caused by an accumulation of hairs from the body in the nasal passages
- vision/eye phenotype
- abnormal cornea morphology
(MGI Ref ID J:13040)
- develop corneal ulceration in late life
- corneal opacity
(MGI Ref ID J:13040)
- later in life, the cornea becomes opaque
- abnormal eyelid morphology
(MGI Ref ID J:64273)
- eyelids are abnormal leading to corneal ulceration in late life
- absent meibomian glands
(MGI Ref ID J:13040)
- narrow eye opening
(MGI Ref ID J:13040)
- the aperture made by the eyelids is smaller
- hearing/vestibular/ear phenotype
- abnormal outer ear morphology
(MGI Ref ID J:13040)
- at about 10-15 days of age, the ears are folded in a peculiar way and the pinnae appear to be drawn up toward the mid-dorsal line
- behavior/neurological phenotype
- abnormal maternal nurturing
(MGI Ref ID J:13040)
- mothering ability is somewhat reduced
- reproductive system phenotype
- decreased litter size
(MGI Ref ID J:13040)
- litter size is slightly smaller
- reduced female fertility
(MGI Ref ID J:13040)
- endocrine/exocrine gland phenotype
- absent meibomian glands
(MGI Ref ID J:13040)
|
Gene & Allele Details
| Allele Symbol |
Edaraddcr |
| Allele Name |
crinkled |
| Common Name(s) |
cr;
|
| Gene Symbol and Name |
Edaradd, EDAR (ectodysplasin-A receptor)-associated death domain |
| Chromosome |
13 |
| Gene Common Name(s) |
1810032E07Rik;
5830469M23Rik;
ED3;
EDA3;
RGD1564010;
RIKEN cDNA 1810032E07 gene;
RIKEN cDNA 5830469M23 gene;
cr;
crinkled;
|
| General Note |
Appeared in the progeny of a male treated with nitrogen mustard. Homozygotes have coats that are thinner than normal and contain only one type of hair resembling an abnormal awl, rather than the four types of hair of the normal coat. There is a bald patch behind the ears, bald tail, kinks at the tail tip, absence of Meibomian glands, a respiratory disorder, modification of the agouti pattern (J:13040), abnormal molars and incisors (J:12999, J:5018, J:5139), and probably abnormalities of many exocrine glands (J:5193). Viability and breeding performance are somewhat reduced (J:13040). Myelin abnormalities have been described in the brains of old crinkled mice (J:5870). Hair follicle initiation is restricted to the period between 17 days of gestation and birth, rather than extending from 14 days of gestation to several days after birth as in normal mice (J:13040). Heterozygotes have normal coats, but many have slight abnormalities of the upper molars (J:5018). The site of gene action inskin of cr/cr mice has been shown, by means of dermal-epidermal recombination grafts of embryonic skin, to be in the epidermis (J:5774). The level of copper in liver is low in young cr/cr mice and the level of activity in liver of the copper-containing enzyme superoxide dismutase (SOD) is also low in both young and adult mice (J:6230). Copper supplementation of the diet of mothers during pregnancy and lactation increases survival of homozygotes, improves coat development, and raises SOD activityand liver copper concentration to normal (J:5568, J:6230). |
| Molecular Note |
PCR analysis of genomic DNA showed that the entire coding region of the gene is deleted. Northern analysis failed to detect transcript in skin RNA from homozygous mutant animals at E18.5. [MGI Ref ID J:73357]
[MGI Ref ID J:75381]
|
| |
| Allele Symbol |
a |
| Allele Name |
nonagouti |
Control Information
Related Strains
Strains carrying a allele
View Strains carrying a (102 strains)
Strains carrying other alleles of Edaradd
View Strains carrying other alleles of Edaradd (1 strain)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
Research Applications
This mouse can be used to support research in many areas including:
Edaraddcr related
Apoptosis Research
Death Receptors
Dermatology Research
Skin and Hair Texture Defects
Mouse/Human Gene Homologs
hypohidrotic ectodermal dysplasia
References
Additional References
Price and Supply Information
| Strain Name: |
B6C3Fe a/a-Edaraddcr/J |
| Stock Number: |
000207 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination.
The shipping destinations are:
*Pricing for Shipping Destination selected:
International
| Price(s) in US dollars ($) | |
| Cryorecovery Fee | $2470.00 | | | |
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; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.
|
| Licensing | See General Terms and Conditions below
|
| Control Information | View Control Information in Strain Details.
View Control Pricing Information for JAX® Strains. |
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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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