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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 (25 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal brain white matter morphology ( J:93600 )
• reduced white matter
abnormal striatum morphology ( J:93600 )
• spongiosis in the caudate putamen and external capsule
abnormal putamen morphology ( J:93600 )
• neurodegeneration in the caudate putamen
abnormal astrocyte morphology ( J:93600 )
• 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 (25 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, incomplete penetrance ( J:58383 , J:73593 )
• 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
decreased body weight ( J:58383 )
• significantly lower body weights observed in the first post natal week
postnatal growth retardation ( J:58383 )
• growth consistently lagged past weaning
• at 8 weeks of age, male weights 77% normal and female weights 78% normal

embryo
failure of zygotic cell division ( J:65267 )
• 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
decreased spongiotrophoblast size ( J:58383 )
• thinning of spongiotrophoblast at E11.5 and becoming more pronounced at E13.5
abnormal placenta labyrinth morphology ( J:58383 )
• reduced size, fibrin deposits, vacuolization, degeneration and hemorrhages

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

immune system
increased tumor necrosis factor secretion ( J:58383 )
• production increases 2X in response to lipopolysaccharide
increased susceptibility to bacterial infection ( J:58383 )
• 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 (25 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal chromosomal synapsis ( J:175085 )
• 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
abnormal female meiosis ( J:175085 )
• 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
abnormal meiotic spindle assembly checkpoint ( J:175085 )
• persistent activation of the spindle assembly checkpoint in oocytes
abnormal synaptonemal complex ( J:175085 )
• 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 (25 available)
Tg(TTR-V30M)15Imeg mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
nervous system phenotype ( J:156658 )
N
• as in human patients with familial amyloidotic polyneuropathy, no transthyretin deposition is observed in the brain and spinal cord
abnormal axon morphology ( J:156658 )
• 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
abnormal dorsal root ganglion morphology ( J:156658 )
• 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
abnormal sciatic nerve morphology ( J:156658 )
• mice exhibit transthyretin depositions in the sciatic nerve unlike wild-type or Tg(TTR-V30M)15Imeg mice
neurodegeneration ( J:156658 )
• at 24 months, mice exhibit collagen pockets indicating neurodegeneration unlike in Tg(TTR-V30M)15Imeg mice

digestive/alimentary system
abnormal digestive system morphology ( J:156658 )
• 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
abnormal stomach morphology ( J:156658 )
• 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
increased interleukin-1 beta secretion ( J:156658 )
• in sciatic nerves and neurons of ganglion that exhibit transthyretin deposition
increased tumor necrosis factor secretion ( J:156658 )
• in sciatic nerves and neurons of ganglion that exhibit transthyretin deposition

integument
abnormal skin morphology ( J:156658 )
• at 3 months, mice exhibit transthyretin depositions in the skin unlike wild-type or Tg(TTR-V30M)15Imeg mice

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
transthyretin amyloidosis DOID:0050638 OMIM:105210
 J:156658




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04/16/2024
MGI 6.23 		The Jackson Laboratory