Tmem79<ma> Spontaneous Allele Detail MGI Mouse (MGI:1856947)

Tmem79^ma
Spontaneous Allele Detail

Summary

Symbol:	Tmem79^ma
Name:	transmembrane protein 79; matted
MGI ID:	MGI:1856947
Synonyms:	ma, matted
Gene:	Tmem79 Location: Chr3:88236351-88241761 bp, - strand Genetic Position: Chr3, 38.8 cM, cytoband F1
Alliance:	Tmem79^ma page

Mutation
origin

Strain of Origin:

CBA/CaGr

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: A spontaneous C-to-G nonsense mutation results in the substitution of a stop for a tyrosine at position 280 (p.Y280). (J:202316, J:202453*)
Inheritance:		Recessive

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)

Phenotypes:

Affected Systems	hm1	hm2	hm3	hm4	cx5	cx6
show or hide all annotated terms
behavior/neurological		√
excessive scratching		√
hematopoietic system	√					√
increased IgE level	√					√
homeostasis/metabolism	√	√				√
impaired skin barrier function	√	√				√
immune system	√	√				√
increased IgE level	√					√
blepharitis	√					√
skin inflammation	√					√
dermatitis	√	√
integument	√	√	√	√	√	√
integument phenotype					N
impaired skin barrier function	√	√				√
skin inflammation	√					√
dermatitis	√	√
abnormal coat/ hair morphology					√
abnormal coat appearance	√		√	√	√	√
darkened coat color			√
abnormal hair growth			√
alopecia	√		√	√	√	√
brittle hair	√					√
matted coat	√	√	√	√	√	√
abnormal hair shaft morphology				√	√
abnormal hair cortex keratinization	√					√
abnormal hair cuticle				√		√
abnormal hair follicle matrix region morphology					√
abnormal hair follicle development	√
abnormal hair cycle				√
abnormal epidermis stratum corneum morphology		√
abnormal corneocyte envelope morphology	√
orthokeratosis	√					√
acanthosis	√	√				√
abnormal skin appearance						√
dry skin						√
scaly skin						√
pigmentation			√
darkened coat color			√
vision/eye	√					√
blepharitis	√					√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	hm2
atopic dermatitis IDs atopic dermatitis DOID:3310 EFO:0000274 ICD10CM:L20 MESH:D003876 OMIM:603165 OMIM:PS603165 UMLS_CUI:C0011615 Close	√	√

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: 2 strains available Cell Lines: 0 lines available
Carrying any Tmem79 Mutation:	23 strains or lines available

References

Original:	J:24772 Searle AG, et al., Matted (symbol ma). Mouse News Lett. 1954;11:29
All:	16 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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