Large<myd> Spontaneous Allele Detail MGI Mouse (MGI:1856965)

Large^myd
Spontaneous Allele Detail

Nomenclature

Symbol:	Large^myd
Name:	like-glycosyltransferase; myodystrophy
MGI ID:	MGI:1856965
Synonyms:	fg, froggy, Large^myd, myd
Gene:	Large Location: Chr8:75338498-75877439 bp, - strand Genetic Position: Chr8, 34.0 cM, cytoband C1

Mutation
origin

Strain of Origin:

STOCK Edn3^ls

Mutation
description

Allele Type:	Spontaneous
Mutation:	Intragenic deletion
	The mutation underlying the myodystrophy phenotype has been determined to be an intragenic deletion in the glycotransferase gene, Large. The deletion of exons 5-7 cause a frameshift and a premature stop codon before the first two catalytic domains. (J:69796)
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 Large Mutation:	91 strains or lines available

Expression

In Mice Carrying this Mutation:

4 assay results

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	hm2	hm3	ht4
behavior/neurological				√	√
limb grasping				√	√
abnormal gait				√
		hm1	hm2	hm3	ht4
cardiovascular system		√
abnormal cardiac muscle morphology		√
dilated cardiomyopathy		√
		hm1	hm2	hm3	ht4
digestive/alimentary system				√
abnormal tongue morphology				√
		hm1	hm2	hm3	ht4
growth/size				√
decreased body weight				√
postnatal growth retardation				√
		hm1	hm2	hm3	ht4
hearing/vestibular/ear			√
decreased brainstem auditory evoked potential			√
		hm1	hm2	hm3	ht4
homeostasis/metabolism				√
abnormal enzyme/coenzyme activity				√
		hm1	hm2	hm3	ht4
immune system			√	√
myositis			√	√
		hm1	hm2	hm3	ht4
life span/aging				√
premature death				√
		hm1	hm2	hm3	ht4
muscle		√	√	√
abnormal muscle morphology				√
abnormal cardiac muscle morphology		√
abnormal diaphragm morphology		√
abnormal soleus morphology		√
abnormal skeletal muscle fiber morphology			√	√
muscle degeneration				√
abnormal muscle physiology				√
dilated cardiomyopathy		√
myositis			√	√
myopathy			√	√
muscle calcification				√
dystrophic muscle				√
		hm1	hm2	hm3	ht4
nervous system				√
absent Schwann cells				√
abnormal spinal nerve morphology				√
abnormal myelination				√
		hm1	hm2	hm3	ht4
reproductive system				√
reduced fertility				√
		hm1	hm2	hm3	ht4
skeleton				√
kyphosis				√
abnormal bone structure				√
		hm1	hm2	hm3	ht4
vision/eye		√
abnormal retinal layer morphology		√
thin retinal outer nuclear layer		√
disorganized retinal outer plexiform layer		√
abnormal eye electrophysiology		√

		hm1	hm2	hm3	ht4
Disease Models		√	√
Muscular Dystrophy, Congenital, Type 1d		√
Facioscapulohumeral Muscular Dystrophy 1A; FSHMD1A			√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

B6.Cg-Large^myd/Pjn

involves: C3HeB/FeJLe * C57BL/6

hm3

Large^myd/Large^myd

involves: STOCK Edn3^ls

ht4

Large^myd/Large⁺

involves: C3HeB/FeJLe * C57BL/6

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
			Allelic Composition	Genetic Background
Models with phenotypic similarity to human diseases associated with human LARGE.
Muscular Dystrophy, Congenital, Type 1d OMIM ID: 608840		hm1	Large^myd/Large^myd	B6.Cg-Large^myd/Pjn	J:100214
Models with phenotypic similarity to human diseases not associated with human LARGE.
Facioscapulohumeral Muscular Dystrophy 1A; FSHMD1A OMIM ID: 158900		hm2	Large^myd/Large^myd	involves: C3HeB/FeJLe * C57BL/6	J:27793

References

Original:	J:5670 Lane PW et al., "Myodystrophy, a new myopathy on chromosome 8 of the mouse." J Hered 1976 May-Jun;67(3):135-8
All:	24 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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