Phenotypes associated with this allele

• Allele Symbol: Edaradd^cr
• Allele Name: crinkled
• Allele ID: MGI:1856832
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Edaradd^cr/Edaradd^cr	B6C3Fe a/a-Edaradd^cr/J	MGI:3707526
hm2	Edaradd^cr/Edaradd^cr	involves: C57BL/6 * C3H	MGI:3029332
hm3	Edaradd^cr/Edaradd^cr	involves: C57BL/6J	MGI:4352738
cx4	Eda^Ta/Eda^+ Edaradd^cr/Edaradd^+	involves: JU/Fa	MGI:4353024

Genotype
MGI:3707526

hm1

• Allelic Composition: Edaradd^cr/Edaradd^cr
• Genetic Background: B6C3Fe a/a-Edaradd^cr/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Edaradd^cr/Edaradd^cr (back) with Edaradd^cr/⁺ (front).

behavior/neurological

abnormal locomotor coordination ( J:5870 )

• mutants twirl in the air when picked up by their tails; variable penetrance

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:29151 )

N • no aberrant bleeding time after tail vein nick

abnormal lipid level ( 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

abnormal brain morphology ( 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 ( J:5870 )

• abnormalities of the cerebellum include abnormal shape and cavitation

abnormal cerebellar layer morphology ( J:5870 )

• all layers of the cerebellar cortex are disorganized

Purkinje cell degeneration ( J:5870 )

• two mutants show pyknosis and loss of some Purkinje cells

abnormal cerebellum fissure morphology ( J:5870 )

• many mutants exhibit an abnormal lateral fissure parallel to the median cerebral fissure

small cerebellum ( J:5870 )

demyelination ( 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

reduced fertility ( J:5870 )

respiratory system

abnormal respiratory mucosa morphology ( J:119848 )

• at P7 and P14, mice lack submucosal glands

Genotype
MGI:3029332

hm2

• Allelic Composition: Edaradd^cr/Edaradd^cr
• Genetic Background: involves: C57BL/6 * C3H

mortality/aging

premature death ( J:13040 )

• mortality increases slightly up to the time of weaning and is very high the week after weaning

postnatal lethality ( J:5568 , J:5680 , J:13040 )

• only approximately 22-24% of homozygotes survived to wean age (J:5568)

• supplementation of the mothers copper intake during pregnancy and lactation can improve viability so that 50% of homozygotes survive to wean age (J:5568)

• while only 22 to 24% of homozygotes survive to 30 days of age, supplementing the dam's diet with high levels of copper increased survival at 30 days of age to 50% (J:5680)

• 40% die before 10 days of age (J:13040)

skeleton

abnormal tooth morphology ( J:12999 )

abnormal incisor morphology ( J:12999 )

• incisors may be smaller and sometimes an incisor is lost

abnormal molar cusp morphology ( J:12999 )

• cusps of all molars are reduced but the pattern is different from that seen in homozygous Lrp6^Cd mutants

decreased molar number ( J:12999 )

• third molars are sometimes absent

small molars ( J:12999 )

• reduction of molars tends to be more extreme in the first than in the second and third molars

abnormal enamel morphology ( J:12999 )

• incisors are more widely covered with enamel, even if normal sized

growth/size/body

abnormal tooth morphology ( J:12999 )

abnormal incisor morphology ( J:12999 )

• incisors may be smaller and sometimes an incisor is lost

abnormal molar cusp morphology ( J:12999 )

• cusps of all molars are reduced but the pattern is different from that seen in homozygous Lrp6^Cd mutants

decreased molar number ( J:12999 )

• third molars are sometimes absent

small molars ( J:12999 )

• reduction of molars tends to be more extreme in the first than in the second and third molars

abnormal enamel morphology ( J:12999 )

• incisors are more widely covered with enamel, even if normal sized

abnormal outer ear morphology ( 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

decreased body weight ( J:13040 )

• already at birth, mutants are 5% lighter than controls; 20-30% lighter at 3 weeks

postnatal growth retardation ( J:13040 )

• slower growth

craniofacial

abnormal tooth morphology ( J:12999 )

abnormal incisor morphology ( J:12999 )

• incisors may be smaller and sometimes an incisor is lost

abnormal molar cusp morphology ( J:12999 )

• cusps of all molars are reduced but the pattern is different from that seen in homozygous Lrp6^Cd mutants

decreased molar number ( J:12999 )

• third molars are sometimes absent

small molars ( J:12999 )

• reduction of molars tends to be more extreme in the first than in the second and third molars

abnormal enamel morphology ( J:12999 )

• incisors are more widely covered with enamel, even if normal sized

abnormal outer ear morphology ( 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

limbs/digits/tail

kinked tail ( J:13040 , J:12999 , J:64273 )

• 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 (J:13040)

• tail has sharp flexures near the tip (J:12999)

pigmentation

abnormal coat/hair pigmentation ( J:5568 , J:13040 , J:64273 )

• increased maternal dietary copper during pregnancy and lactation can darken the coat color of homozygous pups assessed at 6 days of age (J:5568)

• color pattern of agouti is modified; the back is blacker, the flanks are yellower than normal (J:64273)

abnormal skin pigmentation ( J:13040 )

• delay in skin pigmentation due to delayed hair formation (by about 2 days)

respiratory system

abnormal respiration ( J:13040 , J:64273 )

• respiratory disorder is characterized by snuffling and is caused by an accumulation of hairs from the body in the nasal passages (J:13040)

• frequently exhibit respiratory disorders (J:64273)

vision/eye

abnormal cornea morphology ( J:13040 )

cornea opacity ( J:13040 )

• later in life, the cornea becomes opaque

cornea ulcer ( J:64273 )

• develop corneal ulceration in late life

abnormal eyelid morphology ( J:64273 )

• eyelids are abnormal leading to corneal ulceration in late life

absent Meibomian glands ( J:13040 )

narrow eye opening ( J:13040 )

• the aperture made by the eyelids is smaller

decreased eyelid cilium number ( J:13040 )

• reduced number of eyelashes, with both the longest and shortest lashes absent

hearing/vestibular/ear

abnormal outer ear morphology ( 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

abnormal maternal nurturing ( J:13040 )

♀ • mothering ability is somewhat reduced

reproductive system

reduced female fertility ( J:13040 )

♀

decreased litter size ( J:13040 )

• litter size is slightly smaller

endocrine/exocrine glands

absent Meibomian glands ( J:13040 )

hematopoietic system

anemia ( J:5680 )

• anemia with low hemoglobin levels, low red blood cell number, and low packed cell volume is found at 21 days of age

nervous system

abnormal myelination ( J:5680 )

• at 60 days of age homozygotes have less myelination

demyelination ( J:5680 )

• demyelination is found in 4 of 5 homozygotes over 1 year of age, and at 17 months of age there is focal degeneration in cerebellar white matter

integument

abnormal coat/ hair morphology ( J:5568 , J:13040 )

• scanning electron micrographs show that hairs from adults have alternate narrowing and thickening (monilethrix), twisting along the axis (pili torti), or rough nodular shafts with frayed ends (trichorrhexis nodosa) (J:5568)

• 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 (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 (J:13040)

abnormal coat/hair pigmentation ( J:5568 , J:13040 , J:64273 )

• increased maternal dietary copper during pregnancy and lactation can darken the coat color of homozygous pups assessed at 6 days of age (J:5568)

• color pattern of agouti is modified; the back is blacker, the flanks are yellower than normal (J:64273)

abnormal hair growth ( J:13040 )

delayed hair appearance ( 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

focal hair loss ( J:13040 , J:12999 , J:64273 )

• no hair on tail or behind ears (J:12999)

short hair ( J:13040 )

• hairs on the pinna are shorter and thinner

sparse hair ( J:13040 , J:64273 )

• hair density is reduced (J:64273)

abnormal hair texture ( J:13040 )

• coat is thin and has an abnormal texture which makes it look ungroomed

absent guard hair ( J:13040 , J:12999 , J:64273 )

• lack guard hairs in the adult coat (J:12999)

absent zigzag hairs ( J:13040 , J:12999 , J:64273 )

• lack zigzag hairs in the adult coat (J:12999)

abnormal hair follicle development ( J:5680 , J:13040 )

• the diminished number of hair follicles in homozygous 6 day old pups is increased toward normal numbers by feeding the mother a high copper diet (J:5680)

• formation of new hair follicles is suppressed between E12.5 and E17, and again from the time of birth onwards (J:13040)

• the growth rate of those follicles that do form is slowed (J:13040)

• first period of follicle suppression accounts for the absence of guard hairs and the second period for the absence of zigzags (J:13040)

• 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 (J:13040)

underdeveloped hair follicles ( J:5568 )

• at 6 days of age the number of hair follicles is greatly reduced and there are few hairs emerging from the skin surface, but providing the mother with supplemental dietary copper during pregnancy and lactation can increase the number of hair follicles

decreased hair follicle number ( J:13040 )

• the supra-orbital tubercle contains only one follicle instead of two as in wild-type at E13.5

abnormal skin morphology ( J:13040 )

absent Meibomian glands ( J:13040 )

thin dermal layer ( J:13040 )

abnormal epidermal layer morphology ( J:5568 )

• at 6 days of age the skin has a smooth surface, but providing supplemental dietary copper to the mother during pregnancy and lactation can result in a rough epipermal surface in 6 day old pups

pallor ( J:5680 )

• the pallid and smooth skin of homozygotes can be darkened and made more normal in texture by feeding the mother a high copper diet

abnormal skin pigmentation ( J:13040 )

• delay in skin pigmentation due to delayed hair formation (by about 2 days)

abnormal tail ring morphology ( J:64273 )

• no tail rings

thin skin ( J:5568 , J:13040 )

• the skin is thinner than normal and this can be diminished by giving the mother supplemental dietary copper during pregnancy and lactation (J:5568)

• thin skin is seen soon after birth and persists throughout life (J:13040)

Genotype
MGI:4352738

hm3

• Allelic Composition: Edaradd^cr/Edaradd^cr
• Genetic Background: involves: C57BL/6J

integument

abnormal hair growth ( J:5774 )

• tail grafts from embryonic day 15 tails shows that the site of action of crinkled is in the epidermis not the dermis

Genotype
MGI:4353024

cx4

• Allelic Composition: Eda^Ta/Eda⁺; Edaradd^cr/Edaradd⁺
• Genetic Background: involves: JU/Fa

craniofacial

abnormal molar crown morphology ( J:151073 )

♀ • compound heterozygotes have smaller antero-posterior crown diameter in the upper molars and the second and third lower molars and have larger antero-posterior crown diameter in the first lower molar

small molars ( J:151073 )

♀

skeleton

abnormal molar crown morphology ( J:151073 )

♀ • compound heterozygotes have smaller antero-posterior crown diameter in the upper molars and the second and third lower molars and have larger antero-posterior crown diameter in the first lower molar

small molars ( J:151073 )

♀

growth/size/body

abnormal molar crown morphology ( J:151073 )

♀ • compound heterozygotes have smaller antero-posterior crown diameter in the upper molars and the second and third lower molars and have larger antero-posterior crown diameter in the first lower molar

small molars ( J:151073 )

♀