Isl1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Isl1
ISL1 transcription factor, LIM/homeodomain
MGI:101791

62 phenotypes from 10 alleles in 9 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Isl1^Drsh/Isl1⁺ C3HeB/FeJ-Isl1^Drsh	abnormal auditory bulla morphology	J:202214
	abnormal malleus morphology	J:202214
	abnormal tympanic membrane morphology	J:202214
	absent pinna reflex	J:202214
	excessive cerumen	J:202214
	fusion of middle ear ossicles	J:202214
	normal hearing/vestibular/ear phenotype	J:202214
	impaired hearing	J:202214
	increased or absent threshold for auditory brainstem response	J:202214
	increased susceptibility to otitis media	J:202214
	middle ear effusion	J:202214
Isl1^Drsh/Isl1^Drsh C3HeB/FeJ-Isl1^Drsh	embryonic lethality, complete penetrance	J:202214
Isl1^{tm1(cre/Esr1)Krc}/Isl1^tm2Sev involves: 129 129S1/Sv * 129X1/SvJ * C57BL/6	abnormal sensory neuron morphology	J:141110
	perinatal lethality, complete penetrance	J:141110
Isl1^tm1.1Whk/Isl1^tm1.1Whk Tg(Six3-cre)69Frty/0 involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2	abnormal optic nerve morphology	J:146349
	abnormal retina bipolar cell morphology	J:146349
	abnormal retina ganglion cell morphology	J:146349
	abnormal retina outer plexiform layer morphology	J:146349
	decreased amacrine cell number	J:146349
	decreased retina ganglion cell number	J:146349
	increased retina apoptosis	J:146349
	microphthalmia	J:146349
	optic nerve degeneration	J:146349
	thin retina inner nuclear layer	J:146349
	thin retina inner plexiform layer	J:146349
	normal vision/eye phenotype	J:146349
Isl1^tm1.2Whk/Isl1^tm1.2Whk involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr	preweaning lethality, complete penetrance	J:146349
Isl1^tm1Gan/Isl1^tm2Gan Tg(Six3-cre)69Frty/? involves: 129S6/SvEvTac * C57BL/6 * DBA/2	abnormal optic nerve innervation	J:134978
	abnormal optic tract morphology	J:134978
	optic nerve hypoplasia	J:134978
	retina ganglion cell degeneration	J:134978
Isl1^tm1Tmj/Isl1^tm1Tmj either: 129S1/Sv-Isl1^tm1Tmj or (involves: 129S1/Sv * C57BL/6J)	abnormal dorsal aorta morphology	J:31131
	abnormal motor neuron morphology	J:31131
	abnormal spinal cord interneuron morphology	J:31131
	abnormal vascular endothelial cell morphology	J:31131
	decreased embryo size	J:31131
	decreased embryonic neuroepithelium thickness	J:31131
	embryo tissue necrosis	J:31131
	embryonic growth arrest	J:31131
	embryonic lethality during organogenesis, complete penetrance	J:31131
Isl1^tm1Tmj/Isl1^tm1Tmj involves: 129S1/Sv	abnormal heart atrium morphology	J:95093
	abnormal heart development	J:95093
	abnormal heart shape	J:95093
	abnormal pancreas mesenchyme morphology	J:37641
	abnormal pancreas morphology	J:37641
	abnormal pancreatic acinar cell morphology	J:37641
	abnormal pancreatic islet morphology	J:37641
	abnormal pharyngeal arch morphology	J:95093
	abnormal Rathke's pouch development	J:50517
	abnormal splanchnic mesoderm morphology	J:95093
	absent cardiac outflow tract	J:95093
	absent heart right ventricle	J:95093
	absent pancreatic alpha cells	J:37641
	embryonic growth arrest	J:95093
	embryonic lethality during organogenesis, complete penetrance	J:95093
	failure of heart looping	J:95093
	small Rathke's pouch	J:50517
Isl1^tm2Gan/Isl1^tm2Gan Tg(Six3-cre)69Frty/? involves: 129S6/SvEvTac * C57BL/6 * DBA/2	abnormal optic nerve innervation	J:134978
	abnormal optic tract morphology	J:134978
	optic nerve hypoplasia	J:134978
	retina ganglion cell degeneration	J:134978
Isl1^tm2Sev/Isl1^tm2.1Sev Tg(Hoxb6-cre)#Mku/0 involves: 129S1/Sv * 129X1/SvJ * FVB/N	abnormal hindlimb bud morphology	J:184018
	abnormal hindlimb zeugopod morphology	J:184018
	abnormal ischium morphology	J:184018
	absent hindlimb	J:184018
	absent pubis	J:184018
	hindlimb oligodactyly	J:184018
Isl1^tm3Sev/Isl1⁺ involves: C57BL/6J	no abnormal phenotype detected	J:156167

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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