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Phenotypes Associated with This Genotype
Genotype
MGI:2671059
Allelic
Composition
Igsf1tm1Zuk/Y
Genetic
Background
either: (involves: 129S6/SvEv * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igsf1tm1Zuk mutation (0 available); any Igsf1 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• males show reduced pituitary thyrotropin-releasing hormone receptor expression
• males show characteristics of central hypothyroidism

growth/size/body
• males are heavier than controls

homeostasis/metabolism
N
• disruption of this gene was predicted to result in increased FSH synthesis in the pituitary; however, mRNA levels are unchanged in males
• males show decreased circulating triiodothyronine (T3) concentrations
• adult males show diminished pituitary thyroid-stimulating hormone (TSH) concentrations
• adult males show diminished serum thyroid-stimulating hormone (TSH) concentrations
• however, thyroid histology appears normal

nervous system
• males show reduced pituitary thyrotropin-releasing hormone receptor expression

reproductive system
N
• males exhibit normal fertility and testicular size

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
IGSF1 deficiency syndrome DOID:0111140 OMIM:300888
J:190867


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory