Fxn^tm1Mkn
Targeted Allele Detail

Summary

• Symbol: Fxn^tm1Mkn
• Name: frataxin; targeted mutation 1, Michel Koenig
• MGI ID: MGI:2177162
• Synonyms: Frda^-, Frda^del4
• Gene: Fxn Location: Chr19:24238817-24257969 bp, - strand Genetic Position: Chr19, 19.39 cM, cytoband C1
• Alliance: Fxn^tm1Mkn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:62185
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP-flanked PGK-neomycin resistance cassette replaced a genomic DNA fragment containing exon 4, which is highly conserved and often mutated in humans. An additional line was also produced in which the loxP flanked neomycin cassette was removed by Cre mediated recombination, but no distinction was made between these alleles in the original reference. From J:90098: The presence of a human FRDA transgene in hemizygous form in a Frda^tm1Mkn homozygous null background rescues the embryonic lethal phenotype and complements for the loss of endogenous mouse frataxin. (J:62185)

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	Fxn^tm1Mkn/Fxn^tm1Mkn	involves: 129 * C57BL/6J
ht2  Disease Model	Fxn^tm1.1Pand/Fxn^tm1Mkn	B6.Cg-Fxn^tm1.1Pand Fxn^tm1Mkn/J
ht3  Disease Model	Fxn^tm1Mkn/Fxn^tm1Pand	involves: 129/Sv * C57BL/6
cx4  Disease Model	Fxn^tm1Mkn/Fxn^tm1Mkn Tg(FXN)YG8Pook/0	involves: 129/Sv * C57BL/6 * CBA
cx5  Disease Model	Fxn^tm1Mkn/Fxn^tm1Mkn Tg(FXN)YG22Pook/0	involves: 129/Sv * C57BL/6 * CBA

Phenotypes:

Affected Systems	hm1	ht2	ht3	cx4	cx5
show or hide all annotated terms
behavior/neurological				√	√
impaired coordination				√	√
decreased grip strength					√
decreased locomotor activity				√	√
cardiovascular system			√	√	√
abnormal myocardial fiber morphology				√
increased heart iron level			√		√
cardiac fibrosis			√
cellular	√	√		√	√
increased embryonic tissue cell apoptosis	√
abnormal respiratory electron transport chain				√
abnormal mitochondrial biogenesis		√
oxidative stress				√	√
embryo	√
increased embryonic tissue cell apoptosis	√
embryonic growth arrest	√
decreased embryo size	√
embryo tissue necrosis	√
abnormal extraembryonic tissue morphology	√
growth/size/body	√			√	√
decreased embryo size	√
increased body weight				√	√
increased susceptibility to weight gain					√
homeostasis/metabolism	N		√	√	√
homeostasis/metabolism phenotype	N
increased heart iron level			√		√
abnormal enzyme/coenzyme level					√
abnormal enzyme/coenzyme activity				√
immune system			√	√
brain inflammation			√	√
mortality/aging	√		√	N	N
mortality/aging				N	N
premature death			√
embryonic lethality between implantation and somite formation, complete penetrance	√
muscle				√
abnormal myocardial fiber morphology				√
nervous system			√	√	√
nervous system phenotype				N	N
brain inflammation			√	√
abnormal axon morphology				√
chromatolysis				√	√
neuron degeneration				√	√
abnormal dorsal root ganglion morphology				√	√
abnormal lumbar dorsal root ganglion morphology				√
abnormal action potential				√
decreased nerve conduction velocity				√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht2	ht3	cx4	cx5
Friedreich ataxia IDs Friedreich ataxia       DOID:12705 DOID:0050555 ICD10CM:G11.11 ICD9CM_2006:334.0 ICD9CM:334.0 MESH:D005621 NCI:C84718 UMLS_CUI:C0016719 Close	√	√	√	√

Expression

In Mice Carrying this Mutation:	5 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 14 strains available Cell Lines: 0 lines available
• Carrying any Fxn Mutation: 42 strains or lines available

References

• Original: J:62185 Cossee M, et al., Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet. 2000 May 1;9(8):1219-26
• All: 49 reference(s)