Wfs1^tm1Koks
Targeted Allele Detail

Summary

• Symbol: Wfs1^tm1Koks
• Name: wolframin ER transmembrane glycoprotein; targeted mutation 1, Sulev Koks
• MGI ID: MGI:3835761
• Synonyms: Wfs1^bgal, Wfs1^deltaExon8, Wfs1KO, Wfs1^tm1Sira
• Gene: Wfs1 Location: Chr5:37123448-37146326 bp, - strand Genetic Position: Chr5, 19.46 cM
• Alliance: Wfs1^tm1Koks page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:139997
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A NLS-LACZ-Neo cassette was replaced most of exon 8, which corresponds to amino acids 360-890 in the encoded protein. The absence of protein expression and the expression of the reporter fusion product was confirmed by immunohistochemistry on brain samples. (J:139997, J:157967)

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	Wfs1^tm1Koks/Wfs1^tm1Koks	129S6/SvEvTac-Wfs1^tm1Koks
hm2	Wfs1^tm1Koks/Wfs1^tm1Koks	involves: 129S6/SvEvTac * C57BL/6
hm3  Disease Model	Wfs1^tm1Koks/Wfs1^tm1Koks	involves: 129S6/SvEvTac * C57BL/6J
ht4	Wfs1^tm1Koks/Wfs1^+	129S6/SvEvTac-Wfs1^tm1Koks
ht5	Wfs1^tm1Koks/Wfs1^+	involves: 129S6/SvEvTac * C57BL/6

Phenotypes:

Affected Systems	hm1		hm2	hm3	ht4	ht5
show or hide all annotated terms Sex:
behavior/neurological	√	√	√			√
behavior/neurological phenotype			N
abnormal behavioral response to addictive substance			√
impaired behavioral response to addictive substance						√
abnormal cued conditioning behavior			√
decreased exploration in new environment			√
abnormal spatial learning			√
abnormal eating behavior			√
decreased food intake	√	√
increased anxiety-related response			√
increased thigmotaxis			√
impaired swimming			√
decreased vertical activity			√
increased vertical activity	√
decreased locomotor activity			√
increased locomotor activity			√
analgesia			√
decreased copulatory plug deposition		√
abnormal vocalization			√
cellular		√
abnormal sperm flagellum morphology		√
abnormal sperm head morphology		√
decreased male germ cell number		√
decreased spermatogonia number		√
increased sperm motility		√
endocrine/exocrine glands	√	√
abnormal thyroid gland morphology	√	√
abnormal thyroid follicle morphology	√	√
abnormal seminiferous tubule morphology		√
abnormal seminiferous tubule epithelium morphology		√
decreased Sertoli cell number		√
growth/size/body	√	√	√		√	√
decreased body size	√	√	√
decreased body weight	√	√	√		√	√
slow postnatal weight gain	√	√	√
weight loss	√	√
hearing/vestibular/ear				√
abnormal inner hair cell stereociliary bundle morphology				√
cochlear outer hair cell degeneration				√
increased or absent threshold for auditory brainstem response				√
impaired hearing				√
homeostasis/metabolism	√	√	√			√
homeostasis/metabolism phenotype		N
abnormal blood homeostasis		√
decreased circulating glucose level	√
hyperglycemia		√
increased circulating corticosterone level			√
decreased circulating insulin level		√
increased circulating insulin-like growth factor I level	√	√
decreased circulating leptin level		√
increased oxygen consumption	√
impaired glucose tolerance	√	√	√			√
mortality/aging			√
prenatal lethality, incomplete penetrance			√
nervous system				√
abnormal inner hair cell stereociliary bundle morphology				√
cochlear outer hair cell degeneration				√
reproductive system		√
abnormal sperm flagellum morphology		√
abnormal sperm head morphology		√
decreased male germ cell number		√
decreased spermatogonia number		√
increased sperm motility		√
abnormal seminiferous tubule morphology		√
abnormal seminiferous tubule epithelium morphology		√
decreased Sertoli cell number		√
reduced male fertility		√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	hm3
nonsyndromic deafness IDs nonsyndromic deafness       DOID:0050563 MESH:C580334 Close		√
Wolfram syndrome 1 IDs Wolfram syndrome 1       DOID:0110629 ICD10CM:E13.8 OMIM:222300 Close	√

Expression

In Mice Carrying this Mutation:	12 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Wfs1 Mutation: 46 strains or lines available

References

• Original: J:139997 Luuk H, et al., Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome. J Comp Neurol. 2008 Aug 20;509(6):642-60
• All: 32 reference(s)