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Allele : Edaradd<cr> EDAR associated via death domain; crinkled

Primary Identifier  MGI:1856832 Allele Type  Chemically induced (other)
Gene  Edaradd Inheritance Mode  Recessive
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
description  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 in skin 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 activity and liver copper concentration to normal (J:5568, J:6230).
molecularNote  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.
  • mutations:
  • Deletion
  • synonyms:
  • cr,
  • cr
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Mouse alleles --> Mammalian phenotypes (MP terms)

 

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