Agrn^nmf380
Chemically induced Allele Detail

Summary

• Symbol: Agrn^nmf380
• Name: agrin; neuroscience mutagenesis facility, 380
• MGI ID: MGI:3614578
• Synonyms: NMF380
• Gene: Agrn Location: Chr4:156249747-156281945 bp, - strand Genetic Position: Chr4, 88.55 cM
• Alliance: Agrn^nmf380 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutation was identified in an ENU mutagenesis screen. The molecular mutation is an A to G conversion, resulting in the change of phenylalanine 1061 to serine (F1061S, numbered according to the SN form of the protein) in the SEA domain of the encoded protein. (J:176117)
• 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)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Agrn^nmf380/Agrn^nmf380	C57BL/6J-Agrn^nmf380/J
hm2	Agrn^nmf380/Agrn^nmf380	involves: BALB/c * C57BL/6J
hm3	Agrn^nmf380/Agrn^nmf380	involves: C57BL/6J * CAST
hm4	Agrn^nmf380/Agrn^nmf380	involves: C57BL/6J * DBA
hm5	Agrn^nmf380/Agrn^nmf380	involves: C57BL/6J * FVB/N

Phenotypes:

Affected Systems	hm1	hm2	hm3	hm4	hm5
show or hide all annotated terms
behavior/neurological	√
abnormal motor capabilities/coordination/movement	√
limb grasping	√
tremors	√
impaired limb coordination	√
paraparesis	√
growth/size/body	√
decreased body size	√
limbs/digits/tail	√
camptodactyly	√
abnormal hindlimb morphology	√
mortality/aging	√	√	N	√	√
mortality/aging			N
premature death	√	√		√	√
muscle	√		N	√
muscle phenotype			N
abnormal skeletal muscle fiber type ratio	√
skeletal muscle atrophy	√			√
muscle spasm	√
myopathy	√
nervous system	√	√	√	√	√
nervous system phenotype	N
abnormal neuromuscular synapse morphology	√	√	√	√	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
congenital myasthenic syndrome 8 IDs congenital myasthenic syndrome 8       DOID:0110657 OMIM:615120 Close	√

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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 Agrn Mutation: 102 strains or lines available

References

• Original: J:87349 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2004-7
• All: 4 reference(s)