Sqle^Sum3-Jus
Chemically induced Allele Detail

Summary

• Symbol: Sqle^Sum3-Jus
• Name: squalene epoxidase; suppressor of methyl CpG binding protein 2-1, 1 Monica J Justice
• MGI ID: MGI:5489914
• Synonyms: line 895, Sum3^M1Jus
• Gene: Sqle Location: Chr15:59186941-59203042 bp, + strand Genetic Position: Chr15, 25.16 cM
• Alliance: Sqle^Sum3-Jus page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This allele was discovered in a screen for attenuation of the Mecp2^tm1.1Bird/Y phenotype among male G1 offspring from crosses of 129S-Mecp2^tm1.1Bird/+ female mice by ENU-treated C57BL/6J males (G0). The mutation has been identified as a C-to-T transversion at coding nucleotide 1195 of the cDNA sequence (c.1195C>T) that results in an arginine to translation stop substitution at position 399 of the encoded protein (p.R399*). Western blot analysis confirmed the absence of protein expression of the short and long forms in E8.0 embryos. (J:198551)
• Inheritance: Other (see notes)

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	Sqle^Sum3-Jus/Sqle^Sum3-Jus	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J
cx2	Mecp2^tm1.1Bird/Y Sqle^Sum3-Jus/Sqle^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J

Phenotypes:

Affected Systems	hm1	cx2
show or hide all annotated terms
behavior/neurological		√
lethargy		√
decreased startle reflex		√
limb grasping		√
tremors		√
impaired coordination		√
abnormal locomotor activation		√
craniofacial		√
malocclusion		√
growth/size/body		√
malocclusion		√
abnormal body weight		√
immune system		√
dermatitis		√
integument		√
dermatitis		√
mortality/aging	√	√
extended life span		√
embryonic lethality, complete penetrance	√
respiratory system		√
increased pulmonary respiratory rate		√
skeleton		√
malocclusion		√

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

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 Sqle Mutation: 41 strains or lines available

Notes

Dominant modifier

References

• Original: J:198551 Buchovecky CM, et al., A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett Syndrome. Nat Genet. 2013;45(9):1013-20
• All: 1 reference(s)