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Gene: Hhatl MGI:1922020

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Gene Summary

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

Order Alleles

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
decreased lean body mass Hhatlem1(IMPC)Mbp HOM Early adult 3.52×10-06
decreased bone mineral density Hhatlem1(IMPC)Mbp HOM Early adult 8.14×10-07
abnormal gait Hhatlem1(IMPC)Mbp HOM Early adult 4.69×10-05
preweaning lethality, incomplete penetrance Hhatlem1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Hhatlem1(IMPC)Mbp HOM Early adult 3.10×10-06
decreased locomotor activity Hhatlem1(IMPC)Mbp HOM   Early adult 2.01×10-09
decreased exploration in new environment Hhatlem1(IMPC)Mbp HOM Early adult 1.38×10-05
increased total body fat amount Hhatlem1(IMPC)Mbp HOM Early adult 1.96×10-08
increased bone mineral content Hhatlem1(IMPC)Mbp HOM Early adult 3.45×10-08
decreased body length Hhatlem1(IMPC)Mbp HOM   Early adult 1.83×10-05
abnormal startle reflex Hhatlem1(IMPC)Mbp HOM   Early adult 2.87×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Histopathology

Images

7 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

5 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
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor... ORPHA:3077
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response ORPHA:3198
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Irritability, Joint contracture, Ataxia, Exaggerated startle response OMIM:616881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Inability to walk, Short attention span, Irritability, Joint contracture, Exag... OMIM:617864
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Lethargy, Tong... OMIM:608643
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Exaggerated startle response OMIM:620114
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Confus... ORPHA:100924
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Flexion contracture, Exaggerated startle response OMIM:609541
Tay-Sachs Disease
Memory impairment, Depression, Laryngeal dystonia, Inability to walk, Short attention span, Limit... ORPHA:845
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Multiple joint contractures, Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation OMIM:618056
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Failure to thrive, Exaggerated startle response OMIM:618201
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Glycine Encephalopathy With Normal Serum Glycine
Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Joint hypermobili... OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Irritability, Lethargy, Hyperactivity, Exaggerated startle response, Dystonia, Impulsi... OMIM:620423
Sandhoff Disease
Ataxia, Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity, Osteoporosis OMIM:219090
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Failure to thrive, Cognitive impairment, Exaggerated startle re... OMIM:617527
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Exaggerated startle response OMIM:149400
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Failure to thrive, Exaggerated startle response, Dystonia, Impa... ORPHA:521426
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Exaggerated startle response, Ataxia OMIM:620451
Asparagine Synthetase Deficiency
Tremor, Failure to thrive, Exaggerated startle response, Irritability OMIM:615574
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Exaggerated startle response OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Broad-based gait, Inability to walk, Uterine prolapse, Joint hypermobility, Stereotyp... ORPHA:438213
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, Irritability OMIM:618367
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emo... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Obesity, Cor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Obesity, Cor... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Joint hypermobility, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated startle res... 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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