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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 bone mineral density Hhatlem1(IMPC)Mbp HOM Early adult 8.14×10-07
decreased lean body mass Hhatlem1(IMPC)Mbp HOM Early adult 3.52×10-06
increased bone mineral content Hhatlem1(IMPC)Mbp HOM Early adult 3.45×10-08
abnormal gait Hhatlem1(IMPC)Mbp HOM Early adult 4.69×10-05
increased freezing behavior Hhatlem1(IMPC)Mbp HOM Early adult 3.10×10-06
preweaning lethality, incomplete penetrance Hhatlem1(IMPC)Mbp HOM Early adult 0.00
increased total body fat amount Hhatlem1(IMPC)Mbp HOM Early adult 1.96×10-08
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
decreased locomotor activity Hhatlem1(IMPC)Mbp HOM   Early adult 2.03×10-09
decreased exploration in new environment Hhatlem1(IMPC)Mbp HOM Early adult 1.38×10-05

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
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Resting tremor, Hyperac... ORPHA:3077
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Stiff Person Spectrum Disorder
Emotional lability, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Joint contracture, Ataxia OMIM:616881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Inability to walk, Short attention span, Exaggerated startle response, Failure to t... OMIM:617864
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive i... ORPHA:309246
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Inability to walk, Exaggerated startle response OMIM:620114
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Difficulty walking, Abnormal fear-induced behavior, Agitation, Depress... ORPHA:100924
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Flexion contracture, Exaggerated startle response OMIM:609541
Tay-Sachs Disease
Limited elbow extension, Inability to walk, Memory impairment, Depression, Tremor, Short attentio... ORPHA:845
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Difficulty walking, Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Dy... OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia, Leth... OMIM:620423
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Osteoporosis, Obesity, Abdominal obesity OMIM:219090
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Failure to thrive, Dysphagia, Contractures of... OMIM:617527
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Failure to thrive, Dystoni... ORPHA:521426
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Ataxia, Exaggerated startle response, Gait ataxia OMIM:620451
Asparagine Synthetase Deficiency
Failure to thrive, Irritability, Tremor, Exaggerated startle response 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, Inability to walk, Broad-based gait, Exaggerated startle response, Osteoporosis, Ster... ORPHA:438213
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Dysphagia, Exaggerated startle response OMIM:618367
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Corneal s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Corneal s... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disord... 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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