Phenotypes Associated with This Genotype

Genotype
MGI:2671059

• Allelic Composition: Igsf1^tm1Zuk/Y
• Genetic Background: either: (involves: 129S6/SvEv * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

abnormal pituitary gland morphology ( J:190867 )

♂ • males show reduced pituitary thyrotropin-releasing hormone receptor expression

decreased activity of thyroid gland ( J:190867 )

♂ • males show characteristics of central hypothyroidism

growth/size/body

increased body weight ( J:190867 )

♂ • males are heavier than controls

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:84383 )

♂N • disruption of this gene was predicted to result in increased FSH synthesis in the pituitary; however, mRNA levels are unchanged in males

decreased circulating triiodothyronine level ( J:190867 )

♂ • males show decreased circulating triiodothyronine (T3) concentrations

decreased thyroid-stimulating hormone level ( J:190867 )

♂ • adult males show diminished pituitary thyroid-stimulating hormone (TSH) concentrations

decreased circulating thyroid-stimulating hormone level ( J:190867 )

♂ • adult males show diminished serum thyroid-stimulating hormone (TSH) concentrations

♂ • however, thyroid histology appears normal

nervous system

abnormal pituitary gland morphology ( J:190867 )

♂ • males show reduced pituitary thyrotropin-releasing hormone receptor expression

reproductive system

reproductive system phenotype ( J:190867 )

♂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