Sgk3<fz> Spontaneous Allele Detail MGI Mouse (MGI:1856038)

Sgk3^fz
Spontaneous Allele Detail

Nomenclature

Symbol:	Sgk3^fz
Name:	serum/glucocorticoid regulated kinase 3; fuzzy
MGI ID:	MGI:1856038
Gene:	Sgk3 Location: Chr1:9788234-9889929 bp, + strand Genetic Position: Chr1, 7.5 cM

Mutation
origin

Strain of Origin:

CFW stock

Mutation
description

Allele Type:	Spontaneous
Mutation:	Insertion
	This mutation comprises insertion of a single adenine following nucleotide 579 of the cDNA sequence, in a region encoded by exon 10 of the gene, that causes a shift in the amino acid reading frame and premature termination of protein translation following leucine 192 (Leu192Ter), which resides in the serine/threonine kinase domain. (J:125551)
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Sgk3 Mutation:	8 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	cx2
homeostasis/metabolism			√
decreased bleeding time			√
		hm1	cx2
skin/coat/nails		√
abnormal coat/ hair morphology		√
waved hair		√
abnormal hair follicle morphology		√
abnormal dermal papilla		√
abnormal hair cycle anagen phase		√
abnormal hair texture		√
abnormal hair types		√
abnormal epidermal layer morphology		√
		hm1	cx2
touch/vibrissae		√
wavy vibrissae		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Sgk3^fz/Sgk3^fz	CFW stock
skin/coat/nails abnormal coat/ hair morphology (J:90) noticed in new truncal coat by 6 days of age waved hair (J:90) coat is slightly delayed and uneven with new generations of hair, coat is thicker and curlier abnormal hair follicle morphology (J:15247) follicles fail to lengthen, the bulb remaining small and rounded abnormal dermal papilla (J:15247) cell size and arrangement is abnormal is the result of an abnormal interaction of dermis and epidermis abnormal hair cycle anagen phase (J:15247) period of active hair growth is reduced abnormal hair texture (J:90) coat is uneven abnormal hair types (J:90) all hair types are present but are thin and curly abnormal epidermal layer morphology (J:5551) dermal-epidermal exchange experiments show mutant epidermis is unable to produce normal hair in response to dermal signals touch/vibrissae wavy vibrissae (J:90) whiskers are thin and slightly waved noticed between birth and 2 days
Genotype	Allelic Composition	Genetic Background
cx2	Mlph^ln/Mlph^ln Sgk3^fz/Sgk3^fz	C57BL/6J-Sgk3^fz Mlph^ln
homeostasis/metabolism decreased bleeding time (J:7327) bleed time of 0.7 minutes after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls

References

Original:	J:90 DICKIE MM et al., "Fuzzy mice." J Hered 1950 Jul;41(7):193-6
All:	10 reference(s)

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