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Gene: Hhatl MGI:1922020

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Gene Summary

Name:
hedgehog acyltransferase-like
Synonyms:
1110011D13Rik,  Mitsugumin 56,  Mg56,  Gup1

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IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Hhatlem1(IMPC)Mbp HET Early adult 1.12×10-05
abnormal bone structure Hhatlem1(IMPC)Mbp HET Early adult 2.93×10-08
increased total body fat amount Hhatlem1(IMPC)Mbp HOM Early adult 4.13×10-13
abnormal gait Hhatlem1(IMPC)Mbp HOM Early adult 5.03×10-05
increased freezing behavior Hhatlem1(IMPC)Mbp HOM Early adult 7.71×10-07
preweaning lethality, incomplete penetrance Hhatlem1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Hhatlem1(IMPC)Mbp HOM Early adult 3.45×10-08
abnormal startle reflex Hhatlem1(IMPC)Mbp HOM   Early adult 2.29×10-07
decreased bone mineral density Hhatlem1(IMPC)Mbp HOM Early adult 3.57×10-06
decreased lean body mass Hhatlem1(IMPC)Mbp HOM   Early adult 6.05×10-05
decreased locomotor activity Hhatlem1(IMPC)Mbp HOM Early adult 1.75×10-08
decreased exploration in new environment Hhatlem1(IMPC)Mbp HOM Early adult 9.22×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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MicroCT E18.5

Embryo reconstruction

5 Images

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Histopathology

Images

7 Images

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Human diseases caused by Hhatl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hhatl by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia, Irritability, Joint contracture, Failure to thrive OMIM:616881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Irritability, Joint contra... OMIM:617864
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... ORPHA:100924
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Flexion contracture OMIM:609541
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Depress... ORPHA:845
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures, Difficulty walking ORPHA:320406
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia ORPHA:438216
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia OMIM:268800
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Contractures of the large joints, Cognitive impairment, Dysphagia, ... OMIM:617527
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... ORPHA:521426
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Failure to thrive OMIM:615574
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Broad-based gait, Inability to walk, Oste... ORPHA:438213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Ob... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Joint laxity, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Ob... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Joint laxity, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Ob... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder, Dysphagia, Abnormal repet... OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hhatl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hhatl.

No publications found that use IMPC mice or data for Hhatl.

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MGI Allele Allele Type Produced
Hhatlem1(IMPC)Mbp Exon Deletion Mice, Tissue

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