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Symbol
Name
ID

Ahi1
Abelson helper integration site 1
MGI:87971

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Oculomotor apraxia

Elongated superior cerebellar peduncle

Thickened superior cerebellar peduncle

Lateral ventricle dilatation

Enlarged fossa interpeduncularis

Frontal polymicrogyria

Thin corpus callosum

Cerebellar vermis hypoplasia

Molar tooth sign on MRI

Ataxia

Intellectual disability

Postural instability

Global developmental delay

Motor delay

Delayed gross motor development

Delayed ability to walk

Disease(s) Associated with AHI1

Joubert syndrome 3

Joubert syndrome 4

Mouse Phenotypes		nervous system phenotype	reduced cerebellar foliation	decreased brain size	abnormal cerebellar hemisphere morphology	abnormal cerebellar granule layer morphology	abnormal cerebellum vermis morphology	cerebellum hypoplasia	absent photoreceptor outer segment	retina photoreceptor degeneration
Availability	Mouse Genotype	nervous system phenotype	reduced cerebellar foliation	decreased brain size	abnormal cerebellar hemisphere morphology	abnormal cerebellar granule layer morphology	abnormal cerebellum vermis morphology	cerebellum hypoplasia	absent photoreceptor outer segment	retina photoreceptor degeneration
	Ahi1^tm1.1Xjl/Ahi1^tm1.1Xjl	*
	Ahi1^tm1Jgg/Ahi1^tm1Jgg
	Ahi1^tm1Jgg/Ahi1^tm2.1Jgg Tg(Nes-cre)1Kln/0 (conditional)	*

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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