Sim1^tm1Fan
Targeted Allele Detail

Summary

• Symbol: Sim1^tm1Fan
• Name: single-minded family bHLH transcription factor 1; targeted mutation 1, Chen-Ming Fan
• MGI ID: MGI:2180390
• Synonyms: Sim^-
• Gene: Sim1 Location: Chr10:50770850-50865248 bp, + strand Genetic Position: Chr10, 24.87 cM, cytoband B3-B4
• Alliance: Sim1^tm1Fan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:50772
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PGK-neo cassette was inserted to replace the first 750 nucleotides of the 5' region, the initiation codon, and the first 17 codons of the basic helix-loop-helix (bHLH) domain. While message was present in homozygous mutant mice at levels only slightly below normal, immunocytochemistry analysis showed an absence of protein product in the coronal sections of the brain. (J:50772)

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	Sim1^tm1Fan/Sim1^tm1Fan	involves: 129/Sv * C57BL/6
hm2	Sim1^tm1Fan/Sim1^tm1Fan	involves: 129S1/Sv * 129X1/SvJ
ht3  Disease Model	Sim1^tm1Fan/Sim1^+	involves: 129/Sv * C57BL/6
cx4  Disease Model	Sim1^tm1Fan/Sim1^+ Sim2^tm1Fan/Sim2^+	involves: 129/Sv * C57BL/6
cx5	Sim1^tm1Fan/Sim1^tm1Fan Sim2^tm1Fan/Sim2^tm1Fan	involves: 129S1/Sv * 129X1/SvJ
cx6	Sim1^tm1Fan/Sim1^tm1Fan Sim2^tm1Fan/Sim2^+	involves: 129S1/Sv * 129X1/SvJ
cx7	Sim1^tm1Fan/Sim1^+ Sim2^tm1Fan/Sim2^tm1Fan	involves: 129S1/Sv * 129X1/SvJ
cx8	Sim1^tm1Fan/Sim1^tm1Jlmd Sim2^tm1Fan/Sim2^tm1Fan	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Phenotypes:

Affected Systems	hm1	hm2	ht3	cx4	cx5	cx6	cx7	cx8
show or hide all annotated terms
adipose tissue			√
abnormal brown adipose tissue morphology			√
increased brown adipose tissue amount			√
abnormal white adipose tissue morphology			√
increased white adipose tissue amount			√
behavior/neurological			√
polyphagia			√
endocrine/exocrine glands	√
absent magnocellular neurosecretory cells	√
abnormal pituicyte morphology	√
pituitary gland hypoplasia	√
growth/size/body			√	√
increased body length			√
increased susceptibility to weight gain			√	√
homeostasis/metabolism			√
abnormal glucose homeostasis			√
increased circulating insulin level			√
mortality/aging	√
neonatal lethality, complete penetrance	√
nervous system	√	√	√	√	√	√	√	√
abnormal diencephalon morphology	√		√	√
absent magnocellular neurosecretory cells	√
abnormal pituicyte morphology	√
pituitary gland hypoplasia	√
abnormal paraventricular hypothalamic nucleus morphology	√
abnormal supraoptic nucleus morphology	√
abnormal nervous system tract morphology		√			√	√	√
abnormal axon morphology								√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht3	cx4
obesity IDs obesity       DOID:9970 EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MESH:D009765 NCI:C159658 OMIM:601665 UMLS_CUI:C0028754 Close	√	√

Expression

In Mice Carrying this Mutation:	29 assay results
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 Sim1 Mutation: 52 strains or lines available

References

• Original: J:50772 Michaud JL, et al., Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1. Genes Dev. 1998 Oct 15;12(20):3264-75
• All: 11 reference(s)