Rps20<Mhdadsk4> Chemically induced Allele Detail MGI Mouse (MGI:2681787)

Rps20^Mhdadsk4
Chemically induced Allele Detail

Summary

Symbol:	Rps20^Mhdadsk4
Name:	ribosomal protein S20; Martin Hrabe de Angelis dark skin 4
MGI ID:	MGI:2681787
Synonyms:	dark skin 4, Rps20^Dsk4
Gene:	Rps20 Location: Chr4:3831334-3835600 bp, - strand Genetic Position: Chr4, 2.14 cM, cytoband A1
Alliance:	Rps20^Mhdadsk4 page

Mutation
origin

Strain of Origin:

C3HeB/FeJ

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Single point mutation
		A T209C transition results in a leucine to proline amino acid residue change at codon 32. (J:139244)
Inheritance:		Dominant

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background
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hm1	Rps20^Mhdadsk4/Rps20^Mhdadsk4	involves: C3HeB/FeJ
hm2	Rps20^Mhdadsk4/Rps20^Mhdadsk4	involves: C3HeB/FeJ * C57BL/6J
ht3	Rps20^Mhdadsk4/Rps20⁺	C3HeB/FeJ-Rps20^Mhdadsk4/Ieg
cx4	Rps20^Mhdadsk4/Rps20⁺ Trp53^tm1Tyj/Trp53⁺	involves: 129S2/SvPas * C3HeB/FeJ
cx5	Rps20^Mhdadsk4/Rps20⁺ Tg(Dct-lacZ)A12Jkn/0	involves: C3HeB/FeJ * C57BL/6 * CBA

Phenotypes:

Affected Systems	hm1	hm2	ht3	cx4	cx5
show or hide all annotated terms
craniofacial			√
increased ear pigmentation			√
embryo					√
abnormal melanoblast morphology					√
growth/size/body			√
increased ear pigmentation			√
hearing/vestibular/ear			√
increased ear pigmentation			√
integument			√		√
abnormal skin pigmentation			√
increased ear pigmentation			√
abnormal epidermal pigmentation			√
abnormal epidermal melanocyte morphology					√
increased foot pad pigmentation			√
increased tail pigmentation			√
limbs/digits/tail			√
increased foot pad pigmentation			√
increased tail pigmentation			√
mortality/aging	√	√
prenatal lethality, complete penetrance		√
embryonic lethality, complete penetrance	√
nervous system					√
abnormal melanoblast morphology					√
pigmentation			√	N	√
pigmentation phenotype				N
abnormal skin pigmentation			√
increased ear pigmentation			√
abnormal epidermal pigmentation			√
abnormal epidermal melanocyte morphology					√
increased foot pad pigmentation			√
increased tail pigmentation			√
increased melanocyte number					√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Rps20 Mutation:	12 strains or lines available

References

Original:	J:81301 Fitch KR, et al., Genetics of dark skin in mice. Genes Dev. 2003 Jan 15;17(2):214-28
All:	5 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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