Gene: Ldhal6b MGI:2146830

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Gene Summary

Name:
lactate dehydrogenase A-like 6B
Synonyms:
LDHAL,  4933402O15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal auditory brainstem response Ldhal6bem1(IMPC)J HOM   Early adult 5.40×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Electrocardiogram (ECG)

Waveform Image

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

3 Images

Human diseases caused by Ldhal6b 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 Ldhal6b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
OMIM:601071
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
OMIM:130300
Auditory Neuropathy, Autosomal Dominant, 1
OMIM:609129
Abcd Syndrome
OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
OMIM:601382
Optic Atrophy 8
OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
ORPHA:320401
Ravine Syndrome
ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
OMIM:617519
Charcot-Marie-Tooth Disease, Type 4D
OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
OMIM:125250
Charcot-Marie-Tooth Disease, Type 4C
OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
ORPHA:1215
Mohr-Tranebjaerg Syndrome
ORPHA:52368
Acrocraniofacial Dysostosis
OMIM:201050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
OMIM:109120
Late-Infantile/Juvenile Krabbe Disease
ORPHA:206443
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
OMIM:619260
Arthrogryposis, Distal, Type 2A
OMIM:193700
Adult Krabbe Disease
ORPHA:206448
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
ORPHA:3240
Chronic Bilirubin Encephalopathy
ORPHA:529808
Acute Bilirubin Encephalopathy
ORPHA:529799
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
OMIM:609136
Adult-Onset Autosomal Dominant Leukodystrophy
ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
ORPHA:101085
Infantile Krabbe Disease
ORPHA:206436
Cockayne Syndrome Type 1
ORPHA:90321
Trisomy 10P
ORPHA:171929
Cerebrotendinous Xanthomatosis
ORPHA:909
Cockayne Syndrome A
OMIM:216400
Cockayne Syndrome B
OMIM:133540
Mend Syndrome
ORPHA:401973

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 Ldhal6b

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 Ldhal6b.

No publications found that use IMPC mice or data for Ldhal6b.

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MGI Allele Allele Type Produced
Ldhal6bem1(IMPC)J Intra-exon deletion Mice

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