Phenotypes Associated with This Genotype

Genotype
MGI:5516484

• Allelic Composition: Tgif1^tm1.1Caw/Tgif1^tm1.1Caw
• Genetic Background: B6.129S-Tgif1^tm1.1Caw

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

increased middle ear goblet cell number ( J:198238 )

• high density of goblet cells in the epithelium of the middle ear cavity at 2 months of age

mortality/aging

preweaning lethality, incomplete penetrance ( J:198238 )

• 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

abnormal placenta labyrinth morphology ( J:198238 )

• central regions of the placental labyrinths are less well developed

abnormal placenta intervillous maternal lacunae morphology ( J:198238 )

• reduction in maternal blood spaces in placentas

increased placenta intervillous maternal lacunae size ( J:198238 )

• the maternal blood spaces appear larger with fewer surrounding fetal vessels

growth/size/body

short nasal bone ( J:198238 )

short face ( J:198238 )

• shorter face

decreased body size ( J:198238 )

hearing/vestibular/ear

abnormal middle ear morphology ( J:198238 )

• increase in mucosal thickness of the middle ear

increased middle ear goblet cell number ( J:198238 )

• high density of goblet cells in the epithelium of the middle ear cavity at 2 months of age

middle ear effusion ( J:198238 )

• mucus-type ear effusion at 2 months of age

middle ear polyps ( J:198238 )

• polyps that arise from the middle ear mucosa are seen at 4 months of age

increased or absent threshold for auditory brainstem response ( J:198238 )

• 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

impaired hearing ( J:198238 )

• 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

conductive hearing loss ( J:198238 )

• 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

deafness ( J:198238 )

• 36% of mice are deaf at 2 months of age

increased susceptibility to otitis media ( J:198238 )

• 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

abnormal pinna reflex ( J:198238 )

• 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

short nasal bone ( J:198238 )

short face ( J:198238 )

• shorter face

homeostasis/metabolism

abnormal fluid regulation ( J:198238 )

• mutants exhibit ear effusions at P21 that develop into mucus-type effusions at 2 months of age

middle ear effusion ( J:198238 )

• mucus-type ear effusion at 2 months of age

abnormal cytokine level ( J:198238 )

• levels of cytokines, TNF-alpha and IL-1beta, are elevated in ear fluids

immune system

increased susceptibility to otitis media ( J:198238 )

• 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

abnormal cytokine level ( J:198238 )

• levels of cytokines, TNF-alpha and IL-1beta, are elevated in ear fluids

nervous system

hydrocephaly ( J:198238 )

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

skeleton

short nasal bone ( J:198238 )

reproductive system

abnormal pregnancy ( J:198238 )

• by E13.5, the number of resorbed embryos is increased and only 56.25% of embryos appear normal

reduced female fertility ( J:198238 )

• only 1 of 5 females gives birth to pups when mated with homozygous males

respiratory system

short nasal bone ( J:198238 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:198238