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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Igsf1tm1Zuk
targeted mutation 1, Martin M Matzuk
MGI:2671049
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Igsf1tm1Zuk/Igsf1tm1Zuk either: (involves: 129S6/SvEv * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J) MGI:2671055
ot2
 		Igsf1tm1Zuk/Y either: (involves: 129S6/SvEv * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J) MGI:2671059


Genotype
MGI:2671055
hm1
Allelic
Composition		 Igsf1tm1Zuk/Igsf1tm1Zuk
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 (10 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:84383 )
• it was predicted that this mutation would result in increased FSH synthesis in the pituitary; however, mRNA levels were unchanged in both male hemizygotes and female homozygotes




Genotype
MGI:2671059
ot2
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 (10 available)
♀ 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




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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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04/23/2024
MGI 6.23 		The Jackson Laboratory