Hesx1^tm1Icar
Targeted Allele Detail

Summary

• Symbol: Hesx1^tm1Icar
• Name: homeobox gene expressed in ES cells; targeted mutation 1, Iain C A F Robinson
• MGI ID: MGI:1931124
• Synonyms: Hesx1^-
• Gene: Hesx1 Location: Chr14:26716373-26724286 bp, + strand Genetic Position: Chr14, 16.09 cM, cytoband A3-B
• Alliance: Hesx1^tm1Icar page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47920
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Deletion of the entire coding region and replacement with a neomycin cassette. (J:47920)
• Inheritance: Recessive

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)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Hesx1^tm1Icar/Hesx1^tm1Icar	involves: 129P2/OlaHsd
hm2  Disease Model	Hesx1^tm1Icar/Hesx1^tm1Icar	involves: 129P2/OlaHsd * C57BL/6
ht3	Hesx1^tm1Icar/Hesx1^+	involves: 129P2/OlaHsd * C57BL/6
ht4	Hesx1^tm1(cre)Jpmb/Hesx1^tm1Icar	involves: 129P2/OlaHsd * 129S/SvEv
ht5	Hesx1^tm1Icar/Hesx1^tm2Jpmb	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB/N
ht6	Hesx1^tm1Icar/Hesx1^tm3Jpmb	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB/N
cn7	Ctnnb1^tm2Kem/Ctnnb1^+ Hesx1^tm1(cre)Jpmb/Hesx1^tm1Icar	involves: 129P2/OlaHsd * 129S/SvEv * 129S1/Sv * 129X1/SvJ
cn8	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Hesx1^tm1(cre)Jpmb/Hesx1^tm1Icar	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6
cn9	Ctnnb1^tm1Max/Ctnnb1^tm2Kem Hesx1^tm1(cre)Jpmb/Hesx1^tm1Icar	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ
cx10	Hesx1^tm1Icar/Hesx1^+ Tcf7l1^tm2Efu/Tcf7l1^+	involves: 129P2/OlaHsd * 129S/SvEv
cx11	Hesx1^tm1(cre)Jpmb/Hesx1^tm1Icar Tcf7l1^tm2Efu/Tcf7l1^+	involves: 129P2/OlaHsd * 129S/SvEv
cx12	Ctnnb1^tm1Max/Ctnnb1^+ Hesx1^tm1(cre)Jpmb/Hesx1^tm1Icar	involves: 129P2/OlaHsd * 129S/SvEv * 129S1/Sv * 129X1/SvJ
cx13	Ctnnb1^tm1Max/Ctnnb1^+ Hesx1^tm1Icar/Hesx1^tm1Icar	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

Phenotypes:

Affected Systems	hm1	hm2	ht3	ht4	ht5	ht6	cn7	cn8	cn9	cx10	cx11	cx12	cx13
show or hide all annotated terms
craniofacial		√	√
abnormal craniofacial morphology		√	√
abnormal frontonasal prominence morphology		√
abnormal nasal pit morphology		√
abnormal nasal placode morphology		√
abnormal nose morphology			√
abnormal nasal cavity morphology		√
small vomeronasal organ		√
abnormal olfactory epithelium morphology		√
short snout		√
embryo		√
decreased embryonic neuroepithelium thickness		√
endocrine/exocrine glands		√
absent Rathke's pouch		√
bifurcated Rathke's pouch		√
small adenohypophysis		√
absent pituitary infundibular stalk		√
growth/size/body		√	√
abnormal nose morphology			√
abnormal nasal cavity morphology		√
small vomeronasal organ		√
abnormal olfactory epithelium morphology		√
short snout		√
microcephaly		√
hearing/vestibular/ear		√
absent otic vesicle		√
mortality/aging		√
neonatal lethality, incomplete penetrance		√
postnatal lethality, incomplete penetrance		√
nervous system	√	√	√	√	√	√	√	√	√	√	√	√	√
small vomeronasal organ		√
decreased embryonic neuroepithelium thickness		√
abnormal midbrain-hindbrain boundary development		√
absent hippocampal commissure		√
absent anterior commissure		√
abnormal forebrain morphology			√			√
absent Rathke's pouch		√
bifurcated Rathke's pouch		√
small adenohypophysis		√
absent pituitary infundibular stalk		√
abnormal forebrain development	√	√				√	√					√	√
decreased forebrain size		√									√
abnormal hypothalamus morphology		√
abnormal telencephalon morphology		√
abnormal telencephalon development		√			√			√
small embryonic telencephalon	√	√		√			√		√	√		√	√
absent corpus callosum		√
olfactory bulb hypoplasia		√
abnormal septum pellucidum morphology		√
respiratory system		√	√
abnormal nasal pit morphology		√
abnormal nasal placode morphology		√
abnormal nose morphology			√
abnormal nasal cavity morphology		√
small vomeronasal organ		√
abnormal olfactory epithelium morphology		√
taste/olfaction		√
abnormal nasal placode morphology		√
abnormal olfactory epithelium morphology		√
vision/eye	√	√	√	√	√		√	√	√	√		√	√
abnormal eye morphology		√	√
abnormal anterior eye segment morphology				√
abnormal optic cup morphology		√
abnormal optic vesicle formation		√						√
enophthalmos		√
microphthalmia	√	√		√	√		√		√	√		√	√
anophthalmia	√	√		√	√		√		√	√		√	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm2
hypopituitarism IDs hypopituitarism       DOID:9406 ICD10CM:E23.0 MESH:D007018 NCI:C62591 ORDO:95494 UMLS_CUI:C0020635 Close	√
septooptic dysplasia IDs septooptic dysplasia       DOID:0060857 MESH:D025962 NCI:C85063 OMIM:182230 ORDO:3157 UMLS_CUI:C0338503 Close	√

Expression

In Mice Carrying this Mutation:	57 assay results
In Structures Affected by this Mutation:	23 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 Hesx1 Mutation: 14 strains or lines available

References

• Original: J:47920 Dattani MT, et al., Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet. 1998 Jun;19(2):125-33
• All: 8 reference(s)