Tshz1^tm1Core
Targeted Allele Detail

Summary

• Symbol: Tshz1^tm1Core
• Name: teashirt zinc finger family member 1; targeted mutation 1, Nathalie Core
• MGI ID: MGI:3721421
• Gene: Tshz1 Location: Chr18:84029752-84105831 bp, - strand Genetic Position: Chr18, 57.53 cM
• Alliance: Tshz1^tm1Core page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:124124
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Part of exon 2 was replaced with a EGFP gene and a neomycin selection cassette. No gene expression was detected by in site hybridization in embryos at mid embryogenesis. EGFP protein was not detected due to a mutation that prematurely inserted a stop codon. (J:124124)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Tshz1^tm1Core/Tshz1^tm1Core	B6.129P2-Tshz1^tm1Core
hm2	Tshz1^tm1Core/Tshz1^tm1Core	involves: 129P2/OlaHsd * CD-1
ht3	Tshz1^tm1Core/Tshz1^+	involves: 129P2/OlaHsd * CD-1

Phenotypes:

Affected Systems	hm1	hm2	ht3
show or hide all annotated terms
behavior/neurological	√	√
aphagia	√	√
craniofacial		√
abnormal craniofacial bone morphology		√
fusion of atlas and occipital bones		√
abnormal malleus morphology		√
gonial bone hypoplasia		√
absent malleus manubrium		√
absent malleus processus brevis		√
abnormal palate morphology		√
abnormal palatal shelf fusion at midline		√
short soft palate		√
abnormal external auditory canal morphology		√
digestive/alimentary system		√
abnormal palate morphology		√
abnormal palatal shelf fusion at midline		√
short soft palate		√
abnormal epiglottis morphology		√
growth/size/body		√
abnormal palate morphology		√
abnormal palatal shelf fusion at midline		√
short soft palate		√
abnormal external auditory canal morphology		√
hearing/vestibular/ear		√
abnormal external auditory canal morphology		√
abnormal middle ear morphology		√
abnormal malleus morphology		√
gonial bone hypoplasia		√
absent malleus manubrium		√
absent malleus processus brevis		√
abnormal tympanic ring morphology		√
mortality/aging	√	√
neonatal lethality, complete penetrance		√
neonatal lethality, incomplete penetrance	√
respiratory system	√	√
abnormal epiglottis morphology		√
respiratory distress	√	√
skeleton		√	√
abnormal axial skeleton morphology		√
abnormal craniofacial bone morphology		√
fusion of atlas and occipital bones		√
abnormal malleus morphology		√
gonial bone hypoplasia		√
absent malleus manubrium		√
absent malleus processus brevis		√
abnormal epiglottis morphology		√
increased sternebra number		√
abnormal sternocostal joint morphology		√	√
thoracic vertebral transformation		√
abnormal arcus anterior morphology		√
cervical vertebral fusion		√	√
abnormal vertebral arch morphology		√
fusion of vertebral arches		√	√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Mice Carrying this Mutation:	64 assay results
In Structures Affected by this Mutation:	14 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tshz1 Mutation: 52 strains or lines available

References

• Original: J:124124 Core N, et al., Tshz1 is required for axial skeleton, soft palate and middle ear development in mice. Dev Biol. 2007 Aug 15;308(2):407-20
• All: 2 reference(s)