Gas1^tm1Fan
Targeted Allele Detail

Summary

• Symbol: Gas1^tm1Fan
• Name: growth arrest specific 1; targeted mutation 1, Chen-Ming Fan
• MGI ID: MGI:2388397
• Synonyms: Gas1^-
• Gene: Gas1 Location: Chr13:60322219-60325179 bp, - strand Genetic Position: Chr13, 31.92 cM, cytoband B3-C2
• Alliance: Gas1^tm1Fan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70735
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The entire coding region of the gene was replaced with a PGK-neo cassette via homologous recombination. Absence of gene expression was verified by Western blot analysis of protein extracts from E15 homozygous mutant embryos. (J:70735)

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	Gas1^tm1Fan/Gas1^tm1Fan	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
hm2	Gas1^tm1Fan/Gas1^tm1Fan	involves: 129S1/Sv * 129X1/SvJ * CD-1
cx3	Gas1^tm1Fan/Gas1^tm1Fan Shh^tm1Chg/Shh^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
cx4	Gas1^tm1Fan/Gas1^tm1Fan Shh^tm1Chg/Shh^tm1Chg	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
cx5	Gas1^tm1Fan/Gas1^tm1Fan Vax1^tm1Pgr/Vax1^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Phenotypes:

Affected Systems	hm1	hm2	cx3	cx4	cx5
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behavior/neurological		√
impaired balance		√
abnormal gait		√
craniofacial	√		√	√	√
abnormal craniofacial morphology				√
abnormal craniofacial bone morphology	√		√
abnormal basicranium morphology	√
abnormal Meckel's cartilage morphology			√
short Meckel's cartilage			√
small cranium			√
abnormal neurocranium morphology	√		√
abnormal basisphenoid bone morphology	√		√
absent hypoglossal canal	√
small alisphenoid bone	√
alisphenoid bone hypoplasia			√
abnormal temporal bone morphology			√
abnormal styloid process morphology	√
styloid process hypoplasia	√
abnormal temporal bone squamous part morphology	√
abnormal incisor morphology	√		√
abnormal lower incisor morphology			√
absent upper incisors					√
abnormal molar morphology			√
abnormal mandible morphology			√
absent mandibular symphysis			√
abnormal premaxilla morphology	√		√
premaxilla hypoplasia	√		√
absent incus			√
abnormal malleus morphology	√
absent gonial bone	√		√
gonial bone hypoplasia	√
abnormal malleus manubrium morphology	√
abnormal malleus neck morphology	√
abnormal malleus processus brevis morphology	√
absent malleus			√
abnormal stapes morphology	√		√
abnormal nasal capsule morphology	√		√
abnormal palatal mesenchymal cell proliferation	√
abnormal secondary palate development	√
palatal shelves fail to meet at midline	√
midface hypoplasia	√
cleft secondary palate	√		√
single external naris			√
absent vomeronasal organ	√
abnormal external auditory canal morphology	√
digestive/alimentary system	√		√
abnormal palatal mesenchymal cell proliferation	√
abnormal secondary palate development	√
palatal shelves fail to meet at midline	√
cleft secondary palate	√		√
embryo		√
abnormal limb bud morphology		√
thin apical ectodermal ridge		√
abnormal limb mesenchyme morphology		√
growth/size/body	√		√		√
abnormal incisor morphology	√		√
abnormal lower incisor morphology			√
absent upper incisors					√
abnormal molar morphology			√
abnormal nasal capsule morphology	√		√
abnormal palatal mesenchymal cell proliferation	√
abnormal secondary palate development	√
palatal shelves fail to meet at midline	√
midface hypoplasia	√
cleft secondary palate	√		√
single external naris			√
absent vomeronasal organ	√
abnormal external auditory canal morphology	√
hearing/vestibular/ear	√		√
abnormal external auditory canal morphology	√
abnormal otic capsule morphology	√
abnormal middle ear morphology			√
absent incus			√
abnormal malleus morphology	√
absent gonial bone	√		√
gonial bone hypoplasia	√
abnormal malleus manubrium morphology	√
abnormal malleus neck morphology	√
abnormal malleus processus brevis morphology	√
absent malleus			√
abnormal stapes morphology	√		√
abnormal tegmen tympani morphology	√
abnormal tympanic ring morphology	√
absent tympanic ring			√
limbs/digits/tail		√
abnormal limb bud morphology		√
thin apical ectodermal ridge		√
abnormal limb mesenchyme morphology		√
decreased autopod size		√
brachydactyly		√
syndactyly		√
abnormal limb bone morphology		√
abnormal phalanx morphology		√
brachyphalangia		√
short metacarpal bones		√
short metatarsal bones		√
abnormal digit development		√
mortality/aging	√	N	√	√
mortality/aging		N
perinatal lethality, complete penetrance			√
postnatal lethality, incomplete penetrance	√
embryonic lethality, complete penetrance				√
nervous system	√	√	√
absent vomeronasal organ	√
abnormal cerebellum development		√
abnormal cerebellar foliation		√
abnormal cerebellum external granule cell layer morphology		√
holoprosencephaly	√		√
abnormal cerebellar Purkinje cell layer		√
abnormal Purkinje cell morphology		√
abnormal Purkinje cell dendrite morphology		√
decreased Purkinje cell size		√
thin cerebellar granule layer		√
abnormal cerebellar molecular layer		√
small cerebellum		√
pigmentation	√	√
abnormal retina pigment epithelium morphology	√
decreased eye pigmentation		√
respiratory system	√		√
abnormal nasal capsule morphology	√		√
single external naris			√
absent vomeronasal organ	√
skeleton	√	√	√		√
abnormal craniofacial bone morphology	√		√
abnormal basicranium morphology	√
abnormal Meckel's cartilage morphology			√
short Meckel's cartilage			√
small cranium			√
abnormal neurocranium morphology	√		√
abnormal basisphenoid bone morphology	√		√
absent hypoglossal canal	√
small alisphenoid bone	√
alisphenoid bone hypoplasia			√
abnormal temporal bone morphology			√
abnormal styloid process morphology	√
styloid process hypoplasia	√
abnormal temporal bone squamous part morphology	√
abnormal incisor morphology	√		√
abnormal lower incisor morphology			√
absent upper incisors					√
abnormal molar morphology			√
abnormal mandible morphology			√
absent mandibular symphysis			√
abnormal premaxilla morphology	√		√
premaxilla hypoplasia	√		√
absent incus			√
abnormal malleus morphology	√
absent gonial bone	√		√
gonial bone hypoplasia	√
abnormal malleus manubrium morphology	√
abnormal malleus neck morphology	√
abnormal malleus processus brevis morphology	√
absent malleus			√
abnormal stapes morphology	√		√
abnormal nasal capsule morphology	√		√
abnormal limb bone morphology		√
abnormal phalanx morphology		√
brachyphalangia		√
short metacarpal bones		√
short metatarsal bones		√
abnormal synchondrosis	√
synostosis	√		√
premature coronal suture closure			√
vision/eye	√	√
abnormal eye morphology	√
decreased eye pigmentation		√
abnormal anterior eye segment morphology	√
abnormal ciliary body morphology	√
abnormal iris morphology	√
abnormal cornea morphology	√
increased cornea thickness	√
decreased cornea size	√
small lens	√
abnormal eye development	√
coloboma	√
microphthalmia	√
narrow eye opening	√
abnormal posterior eye segment morphology	√
abnormal retina pigment epithelium morphology	√
abnormal retina neuronal layer morphology	√
abnormal retina ganglion layer morphology	√
abnormal vitreous body morphology	√

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

Expression

In Mice Carrying this Mutation:	41 assay results
In Structures Affected by this Mutation:	46 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 Gas1 Mutation: 14 strains or lines available

References

• Original: J:70735 Lee CS, et al., Transdifferentiation of the ventral retinal pigmented epithelium to neural retina in the growth arrest specific gene 1 mutant. Dev Biol. 2001 Aug 1;236(1):17-29
• All: 9 reference(s)