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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tgif1tm1.1Caw
targeted mutation 1.1, Christopher A Walsh
MGI:3577049
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tgif1tm1.1Caw/Tgif1tm1.1Caw B6.129S-Tgif1tm1.1Caw MGI:5516484
hm2
Tgif1tm1.1Caw/Tgif1tm1.1Caw involves: C57BL/6 * FVB/N MGI:3577403
ht3
Tgif1tm1.1Caw/Tgif1+ B6.129S-Tgif1tm1.1Caw MGI:5516482


Genotype
MGI:5516484
hm1
Allelic
Composition
Tgif1tm1.1Caw/Tgif1tm1.1Caw
Genetic
Background
B6.129S-Tgif1tm1.1Caw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgif1tm1.1Caw mutation (0 available); any Tgif1 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer (10.84%) than the expected 25% of mutants are seen at weaning from heterozygous intercrosses
• fewer (27.9%) than the expected 50% of homozygotes are seen at weaning from heterozygous female to homozygous male crossings, indicating embryonic or neonatal lethality

embryo
• central regions of the placental labyrinths are less well developed
• reduction in maternal blood spaces in placentas
• the maternal blood spaces appear larger with fewer surrounding fetal vessels

growth/size/body

hearing/vestibular/ear
• mucus-type ear effusion at 2 months of age, with a high density of goblet cells in the epithelium of the middle ear cavity
• increase in mucosal thickness of the middle ear
• polyps that arise from the middle ear mucosa are seen at 4 months of age
• the average auditory-evoked brainstem response thresholds are elevated by about 30 dB SPL in mutants at 2 months of age, suggesting conductive hearing loss
• 50% of mutants have reduced hearing and 14% have almost normal hearing, although still reduced compared to wild-type mice, at 2 months of age
• however, no abnormalities are seen in the cochlea or organ of Corti and no loss of spinal ganglion neurons is seen
• the average auditory-evoked brainstem response thresholds are elevated by about 30 dB SPL in mutants at 2 months of age, suggesting conductive hearing loss
• 36% of mice are deaf at 2 months of age
• mutants exhibit otitis media by 21 days of age, with 67% of mutants having fluid in the middle ear cavity and a thickened epithelial lining
• inflammation progresses to a chronic inflammation with effusion by 2 months of age
• appearance of cellular debris-like aggregates in the ear effusions at 2 and 4 months of age
• middle ear fluid contains granulocytes, monocytes, and macrophages and the infammatory cell populations vary over time

behavior/neurological
• 86% of mutants show a reduced Preyer's reflex at 1 month of age, and all mutants show reduced hearing by 2 months of age

craniofacial

homeostasis/metabolism
• mutants exhibit ear effusions at P21 that develop into mucus-type effusions at 2 months of age
• levels of cytokines, TNF-alpha and IL-1beta, are elevated in ear fluids

immune system
• mutants exhibit otitis media by 21 days of age, with 67% of mutants having fluid in the middle ear cavity and a thickened epithelial lining
• inflammation progresses to a chronic inflammation with effusion by 2 months of age
• appearance of cellular debris-like aggregates in the ear effusions at 2 and 4 months of age
• middle ear fluid contains granulocytes, monocytes, and macrophages and the infammatory cell populations vary over time
• levels of cytokines, TNF-alpha and IL-1beta, are elevated in ear fluids

nervous system
• 11 of 67 mutants develop hydrocephalus at 11 months of age

skeleton

reproductive system
• by E13.5, the number of resorbed embryos is increased and only 56.25% of embryos appear normal
• only 1 of 5 females gives birth to pups when mated with homozygous males

Mouse Models of Human Disease
OMIM ID Ref(s)
Otitis Media, Susceptibility to 166760 J:198238




Genotype
MGI:3577403
hm2
Allelic
Composition
Tgif1tm1.1Caw/Tgif1tm1.1Caw
Genetic
Background
involves: C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgif1tm1.1Caw mutation (0 available); any Tgif1 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• displayed normal growth and behavior and were fertile and there were no discernible derangements in any of the major organ systems, including the forebrain

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Holoprosencephaly 4; HPE4 142946 J:97642




Genotype
MGI:5516482
ht3
Allelic
Composition
Tgif1tm1.1Caw/Tgif1+
Genetic
Background
B6.129S-Tgif1tm1.1Caw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgif1tm1.1Caw mutation (0 available); any Tgif1 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• central regions of the placental labyrinths are less well developed
• reduction in maternal blood spaces in placentas
• the maternal blood spaces appear larger with fewer surrounding fetal vessels

hearing/vestibular/ear
• 19% of mutants have fluid in one ear and thickened epithelial lining in the middle ear at P21
• 37% of mutants at P21 exhibit thickened epithelial lining in the middle ear only
• the average auditory-evoked brainstem response thresholds are elevated by about 20 dB SPL in mutants at 2 months of age
• 27% of mutants have slightly reduced hearing at 2 months of age

nervous system
• 4 of 199 heterozygotes develop hydrocephalus at 11 months of age





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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory