Smarcb1^tm2Sho
Targeted Allele Detail

Summary

• Symbol: Smarcb1^tm2Sho
• Name: SWI/SNF related BAF chromatin remodeling complex subunit B1; targeted mutation 2, Stuart Orkin
• MGI ID: MGI:2447707
• Synonyms: Snf5^floxed
• Gene: Smarcb1 Location: Chr10:75732603-75757448 bp, - strand Genetic Position: Chr10, 38.61 cM
• Alliance: Smarcb1^tm2Sho page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:80224
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP-flanked neomycin selection cassette was inserted into intron 1 and a single loxP site in the same orientation was inserted 0.8 kb upstream of exon 1. The neomycin selection cassette was removed by transient Cre expression in ES cells, leaving loxP sites flanking exon 1 in the final allele. Upon Cre-mediated recombination, exon 1 and flanking sequences are deleted. (J:80224)

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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cn1	Smarcb1^tm2Sho/Smarcb1^+ Trp53^tm1Brn/Trp53^tm1Brn Tg(GFAP-cre)#Gtm/0	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
cn2	Smarcb1^tm2Sho/Smarcb1^+ Trp53^tm1Brn/Trp53^+ Tg(GFAP-cre)#Gtm/0	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
cn3	Smarcb1^tm2Sho/Smarcb1^tm2Sho Trp53^tm1Brn/Trp53^+ Tg(GFAP-cre)#Gtm/0	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
cn4  Disease Model	Smarcb1^tm2Sho/Smarcb1^tm2Sho Trp53^tm1Brn/Trp53^tm1Brn Tg(GFAP-cre)#Gtm/0	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
cn5	Smarcb1^tm1Sho/Smarcb1^tm2Sho Tg(Mx1-cre)1Cgn/?	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA
cn6	Smarcb1^tm2Sho/Smarcb1^tm2Sho Tg(GFAP-cre)#Gtm/0	involves: 129S1/Sv * C57BL/6 * CBA
cn7	Smarcb1^tm2Sho/Smarcb1^+ Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL
cn8	Smarcb1^tm2Sho/Smarcb1^tm2Sho Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL

Phenotypes:

Affected Systems	cn1	cn2	cn3	cn4	cn5	cn6	cn7	cn8
show or hide all annotated terms
behavior/neurological	√	√		√
lethargy				√
excessive scratching	√	√		√
dystonia				√
tremors				√
impaired coordination				√
abnormal limb posture				√
abnormal locomotor behavior				√
ataxia				√
abnormal gait				√
abnormal stride length				√
hindlimb paralysis				√
circling				√
seizures				√
cardiovascular system					√
bruising					√
intestinal hemorrhage					√
cellular				√		√
abnormal cerebellar granule cell migration				√		√
digestive/alimentary system					√
intestinal hemorrhage					√
growth/size/body				√
decreased body size				√
decreased body weight				√
hematopoietic system					√
abnormal bone marrow cell morphology/development					√
pancytopenia					√
mortality/aging				√	√		√	√
decreased survivor rate				√
premature death					√
prenatal lethality, complete penetrance								√
prenatal lethality, incomplete penetrance							√
muscle				√
dystonia				√
neoplasm			N	√		N
neoplasm			N			N
increased brain tumor incidence				√
nervous system			√	√		√
seizures				√
abnormal cerebellar granule cell migration				√		√
increased brain tumor incidence				√
abnormal brain white matter morphology			√	√		√
abnormal corpus callosum morphology				√		√
abnormal hippocampus morphology				√
abnormal cerebral cortex morphology				√
thin cerebral cortex						√
abnormal cerebellum morphology				√
abnormal cerebellum external granule cell layer morphology				√
abnormal cerebellar layer morphology				√
abnormal cerebellar Purkinje cell layer						√
decreased oligodendrocyte number				√
gliosis				√
axon degeneration						√
demyelination						√
reproductive system							√
decreased litter size							√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cn4
central nervous system cancer IDs central nervous system cancer       DOID:3620 DOID:0060093 DOID:1318 EFO:0000326 ICD10CM:C72.9 MESH:D016543 NCI:C4627 NCI:C9293 UMLS_CUI:C0085136 UMLS_CUI:C0348374 Close	√

Expression

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

Tumor Data

List all tumor models in MMHCdb carrying Smarcb1^tm2Sho

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 Smarcb1 Mutation: 23 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System (Malignant Rhabdoid Tumors) J:226786 in double homozygous Smarcb1 and Trp53 conditional (Tg(GFAP-cre)#Gtm) mutants.

References

• Original: J:80224 Roberts CW, et al., Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell. 2002 Nov;2(5):415-25
• All: 12 reference(s)