Mouse Genome Informatics
hm1
    Tgif1tm1.1Caw/Tgif1tm1.1Caw
B6.129S-Tgif1tm1.1Caw
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

embryogenesis
• 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

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
• middle ear fluid contains granulocytes, monocytes, and macrophages and the infammatory cell populations vary over time
• 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
• 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 IDRef(s)
Otitis Media, Susceptibility to 166760 J:198238


Mouse Genome Informatics
hm2
    Tgif1tm1.1Caw/Tgif1tm1.1Caw
involves: C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
NOT Holoprosencephaly 4; HPE4 142946 J:97642


Mouse Genome Informatics
ht3
    Tgif1tm1.1Caw/Tgif1+
B6.129S-Tgif1tm1.1Caw
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
embryogenesis
• 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