Sox1^tm1Vep
Targeted Allele Detail

Summary

• Symbol: Sox1^tm1Vep
• Name: SRY (sex determining region Y)-box 1; targeted mutation 1, Vasso Episkopou
• MGI ID: MGI:2137412
• Synonyms: SOX1^beta-geo, Sox1^lacZ, Sox1^M1, Sox1^MI
• Gene: Sox1 Location: Chr8:12445519-12449555 bp, + strand Genetic Position: Chr8, 5.73 cM, cytoband A1-A2
• Alliance: Sox1^tm1Vep page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:46636
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Most of the coding region was replaced with an in-frame beta-geo expression gene. (J:46636)

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)
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hm1	Sox1^tm1Vep/Sox1^tm1Vep	either: (involves: 129/Sv * 129S/SvEv) or (involves: 129S/SvEv * MF1)
ht2	Sox1^tm1Vep/Sox1^tm2Vep	involves: 129S/SvEv
cx3	Sox1^tm1Vep/Sox1^tm2Vep Sox2^tm1Vep/Sox2^+	involves: 129S/SvEv
cx4	Sox1^tm1Vep/Sox1^tm1Vep Sox2^tm1Vep/Sox2^+	involves: 129S/SvEv

Phenotypes:

Affected Systems	hm1	ht2	cx3	cx4
show or hide all annotated terms
behavior/neurological	√		√
abnormal parental behavior	√
abnormal sexual interaction	√
seizures	√		√
cellular		√
abnormal neuronal migration		√
mortality/aging	√		√
premature death	√		√
nervous system	√	√	√	√
nervous system phenotype		N
seizures	√		√
abnormal neuronal migration		√
abnormal striatum morphology		√
abnormal ventral striatum morphology		√
abnormal nucleus accumbens morphology		√
abnormal olfactory cortex morphology		√	√	√
vision/eye	√		√
abnormal lens development	√
abnormal lens vesicle development	√
small lens	√
microphthalmia	√		√

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

Expression

In Mice Carrying this Mutation:	9 assay results
In Structures Affected by this Mutation:	6 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 Sox1 Mutation: 13 strains or lines available

References

• Original: J:46636 Nishiguchi S, et al., Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice. Genes Dev. 1998 Mar 15;12(6):776-81
• All: 9 reference(s)