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Phenotypes Associated with This Genotype
Genotype
MGI:3721912
hm2
Allelic
Composition
Tshz1tm1Core/Tshz1tm1Core
Genetic
Background
involves: 129P2/OlaHsd * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tshz1tm1Core mutation (0 available); any Tshz1 mutation (52 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are born in Mendelian ratios but none survive past P0

skeleton
• in 4 of 12 mice the basioccipital bone is fused to the anterior arch of atlas
• the malleus was mishappen in that the main body is narrow and the distal part is completely disrupted and ends prematurely in a claw-like tip
• the gonial bone presents with variable hypoplasia and abnormal shape
• the epiglottis is flattened and stunted in shape
• in 2 of the 5 mice with 8 vertebro-strenal ribs, an additional sternebra is formed between ribs 7 and 8
• 5 of 12 mice have 8 vertebro-sternal ribs
• in 2 of the 5 mice with 8 vertebro-sternal ribs, T8 acquired a T7 identity
• the arch of atlas is misshapen, broader and often split in the dorsal edge
• in 3 of 12 mice C1 and C2 are fused
• 11 of 12 mice have abnormal neural arches
• bilaterally in 9 of 12 mice and unilaterally in 2 of 12 mice, the neural arches are fused at C2 and C3

craniofacial
• in 4 of 12 mice the basioccipital bone is fused to the anterior arch of atlas
• the malleus was mishappen in that the main body is narrow and the distal part is completely disrupted and ends prematurely in a claw-like tip
• the gonial bone presents with variable hypoplasia and abnormal shape
• the posterior palate is thickened and ends abnormally distant from the epiglottis with a bulbous shape
• at E14.5, the palatal shelves fail to fuse in their caudal most part
• histological staining of sections revealed shortening of the soft palate in newborns
• the posterior palate (velum) is missing
• the external acoustic meatus is shorter as a consequence of the displaced tympanic ring

hearing/vestibular/ear
• the external acoustic meatus is shorter as a consequence of the displaced tympanic ring
• 12 of 12 mice have middle ear defects
• the malleus was mishappen in that the main body is narrow and the distal part is completely disrupted and ends prematurely in a claw-like tip
• the gonial bone presents with variable hypoplasia and abnormal shape
• the tympanic ring is strongly shortened, thicker, ends in a blistered shape and is displaced laterally

respiratory system
• the epiglottis is flattened and stunted in shape

behavior/neurological
• at birth, mice are unable to feed

digestive/alimentary system
• the posterior palate is thickened and ends abnormally distant from the epiglottis with a bulbous shape
• at E14.5, the palatal shelves fail to fuse in their caudal most part
• histological staining of sections revealed shortening of the soft palate in newborns
• the posterior palate (velum) is missing
• the epiglottis is flattened and stunted in shape

growth/size/body
• the posterior palate is thickened and ends abnormally distant from the epiglottis with a bulbous shape
• at E14.5, the palatal shelves fail to fuse in their caudal most part
• histological staining of sections revealed shortening of the soft palate in newborns
• the posterior palate (velum) is missing
• the external acoustic meatus is shorter as a consequence of the displaced tympanic ring


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory