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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hsf1tm1Ijb
targeted mutation 1, Ivor J Benjamin
MGI:2155444
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hsf1tm1Ijb/Hsf1tm1Ijb 129.129S6-Hsf1tm1Ijb MGI:3606147
hm2
Hsf1tm1Ijb/Hsf1tm1Ijb either: (involves: 129S6/SvEvTac * 129X1/SvJ) or (involves: 129S6/SvEvTac * BALB/c) or (involves: 129S6/SvEvTac * C57BL/6J) or (involves: 129S6/SvEvTac * ICR) MGI:3606146
hm3
Hsf1tm1Ijb/Hsf1tm1Ijb involves: 129S6/SvEvTac MGI:5285095
cx4
Hsf1tm1Ijb/Hsf1tm1Ijb
Tg(TTR-V30M)15Imeg/0
involves: 129S6/SvEvTac * BALB/c * C57BL/6 MGI:4429562


Genotype
MGI:3606147
hm1
Allelic
Composition
Hsf1tm1Ijb/Hsf1tm1Ijb
Genetic
Background
129.129S6-Hsf1tm1Ijb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsf1tm1Ijb mutation (1 available); any Hsf1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• reduced white matter
• spongiosis in the caudate putamen and external capsule
• neurodegeneration in the caudate putamen
• longer processes




Genotype
MGI:3606146
hm2
Allelic
Composition
Hsf1tm1Ijb/Hsf1tm1Ijb
Genetic
Background
either: (involves: 129S6/SvEvTac * 129X1/SvJ) or (involves: 129S6/SvEvTac * BALB/c) or (involves: 129S6/SvEvTac * C57BL/6J) or (involves: 129S6/SvEvTac * ICR)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsf1tm1Ijb mutation (1 available); any Hsf1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: lethality worse on a 129 background than on BALB/c, C57BL/6, or IRC backgrounds (J:58383)
• death starts to occur around E14 (J:58383)
• fewer homozygotes born than expected (J:73593)

growth/size/body
• significantly lower body weights observed in the first post natal week
• growth consistently lagged past weaning
• at 8 weeks of age, male weights 77% normal and female weights 78% normal

embryo
• zygotes from homozygous mothers fail to develop even when transplanted to wild-type mothers
• block at 1 cell stage, few ever reach 2 cell stage
• thinning of spongiotrophoblast at E11.5 and becoming more pronounced at E13.5
• reduced size, fibrin deposits, vacuolization, degeneration and hemorrhages

reproductive system
• females infertile but males with normal fertility (J:58383)
• zygotes fail to develop in homozygous mothers regardless of genotype (J:65267)

immune system
• production increases 2X in response to lipopolysaccharide
• significantly reduced survival when challenged with lipopolysaccharide




Genotype
MGI:5285095
hm3
Allelic
Composition
Hsf1tm1Ijb/Hsf1tm1Ijb
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsf1tm1Ijb mutation (1 available); any Hsf1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• the percentage of univalent chromosomes is increased, single chromatids are present, and an increase in the percentage of separated centromeres suggesting impaired cohesion in oocytes at metaphase I
• at P1 only 51% of oocytes have reached the diplotene stage compared to 80% of oocytes in heterozygous controls
• in pachytene oocytes the number of MSH4 foci is significantly reduced and the DNA repair process is abnormal
• in oocytes chromosomal length is significantly increased at metaphase I
• significantly blocked in the pro-Mi/MI phase
• persistent activation of the spindle assembly checkpoint in oocytes
• in oocytes the length of the synaptonemal complex (SC) is significantly increased




Genotype
MGI:4429562
cx4
Allelic
Composition
Hsf1tm1Ijb/Hsf1tm1Ijb
Tg(TTR-V30M)15Imeg/0
Genetic
Background
involves: 129S6/SvEvTac * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsf1tm1Ijb mutation (1 available); any Hsf1 mutation (7 available)
Tg(TTR-V30M)15Imeg mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• as in human patients with familial amyloidotic polyneuropathy, no transthyretin deposition is observed in the brain and spinal cord
• after 24 months, mice exhibit a decrease in the number of unmyelinated fibers and myelinated fibers in sciatic nerves with transthyretin depositions unlike in wild-type mice
• at 3 months, some mice exhibit transthyretin depositions in the dorsal root ganglion unlike wild-type or Tg(TTR-V30M)15Imeg mice
• penetrance of thranthyretin increases with age
• mice exhibit transthyretin depositions in the sciatic nerve unlike wild-type or Tg(TTR-V30M)15Imeg mice
• at 24 months, mice exhibit collagen pockets indicating neurodegeneration unlike in Tg(TTR-V30M)15Imeg mice

digestive/alimentary system
• from 1 to 24 months of age, mice exhibit transthyretin depositions in the gastrointestinal tract unlike in wild-type mice
• mice exhibit a 2- to 3-fold higher penetrance of transthyretin deposition compared with Tg(TTR-V30M)15Imeg mice
• at 6 months, mice exhibit amyloid depositions in the stomach unlike wild-type mice
• a higher number of older mice exhibit amyloid depositions in the stomach

immune system
• in sciatic nerves and neurons of ganglion that exhibit transthyretin deposition
• in sciatic nerves and neurons of ganglion that exhibit transthyretin deposition

integument
• at 3 months, mice exhibit transthyretin depositions in the skin unlike wild-type or Tg(TTR-V30M)15Imeg mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Amyloidosis, Hereditary, Transthyretin-Related 105210 J:156658





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory