Edaradd<sup><i>swhKyo</i></sup> (EDAR-associated death domain;swh Kyo mutant)

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Gene: Edaradd^swhKyo (EDAR-associated death domain;swh Kyo mutant) Rattus norvegicus

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Symbol:	Edaradd^swhKyo
Name:	EDAR-associated death domain;swh Kyo mutant
RGD ID:	14398765
Description:	A spontaneous sparse-and-wavy (swh) mutation was identified in WTC-swh/Kyo rats. A missense mutation (C to T) in exon 6 of the swh/swh Edaradd gene was identified in the mutant rat. ASSOCIATED WITH abnormal awl hair morphology; abnormal hair texture; abnormal mammary gland alveolus morphology; ASSOCIATED WITH hypohidrotic ectodermal dysplasia
Type:	allele of Edaradd
Is Marker For:	Strains: WTC-swh/Kyo
Latest Assembly:	mRatBN7.2 - mRatBN7.2 Assembly
Position:	No map positions available.

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

hypohidrotic ectodermal dysplasia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

abnormal awl hair morphology (IAGP)

abnormal hair texture (IAGP)

abnormal mammary gland alveolus morphology (IAGP)

abnormal molar cusp morphology (IAGP)

abnormal submucosal gland morphology (IAGP)

abnormal tongue morphology (IAGP)

absent Meibomian glands (IAGP)

absent sweat gland (IAGP)

decreased body weight (IAGP)

decreased hair follicle number (IAGP)

mammary gland hypoplasia (IAGP)

small hair follicles (IAGP)

small male preputial gland (IAGP)

sparse hair (IAGP)

waved hair (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia.	Del-Pozo J, etal., Dis Model Mech. 2019 Apr 25;12(4). pii: 12/4/dmm037804. doi: 10.1242/dmm.037804.
2.	A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.	Kuramoto T, etal., BMC Genet. 2011 Oct 21;12:91. doi: 10.1186/1471-2156-12-91.
3.	Sparse and wavy hair: a new model for hypoplasia of hair follicle and mammary glands on rat chromosome 17.	Kuramoto T, etal., J Hered. 2005 Jul-Aug;96(4):339-45. Epub 2005 Apr 13.

Genomics

Related Rat Strains

The following Strains have been annotated to Edaradd^swhKyo

WTC-swh/Kyo

Expression

Sequence

Nucleotide Sequences

Additional Information

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Mammalian Phenotype