Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SPG7, paraplegin matrix AAA peptidase subunit
Synonyms:
paraplegin,  Cmar,  spastic paraplegia 7 homolog (human)

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Spg7 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.

The table below shows human diseases associated to Spg7 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Spg7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Posterior Column Ataxia
Impaired proprioception, Scoliosis, Ataxia, Impaired vibratory sensation OMIM:176250
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation, Axonal loss OMIM:212890
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Steppage gait, Distal sensory impairment, Axonal degeneration, Impaired distal vibr... OMIM:614436
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Distal sensory impairment, Axonal degeneration, Scoliosis, Gait disturbance OMIM:616155
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Inability to walk by childhood/adolescence, Distal sensory impairment, Axonal deg... OMIM:214400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Axonal degeneration, Chorea, Scoliosis, Truncal ataxia, I... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4C
Difficulty walking, Distal sensory impairment, Axonal degeneration, Abnormal cranial nerve morpho... OMIM:601596
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Gait disturbance, Decreased number of peripheral ... OMIM:604484
Charcot-Marie-Tooth Disease Type 2B1
Steppage gait, Distal sensory impairment, Inability to walk, Axonal degeneration, Sensory axonal ... ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Difficulty walking, Distal sensory impairment, Axonal degeneration, Cerebellar atro... OMIM:302800
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Kyphoscoliosis, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia... OMIM:604168
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Scoliosis, Falls, Axonal degeneration OMIM:618811
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Abnormal peripheral nerve morphology by anatomical site, Axonal degenera... ORPHA:88628
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Axonal degeneration, Atrophy of the spinal cord, Diffuse axonal swelling, Deg... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired pain sensation, Impaired distal vibration sensation, Decreased number of peripheral myel... OMIM:607706
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Axonal degeneration OMIM:618138
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Steppage gait, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formati... OMIM:620378
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired tandem gait, Distal sensory impairment, Chronic axonal neuropathy, Abnormality of the ve... ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Scoliosis, Sensor... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Decreased... OMIM:615490
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Axonal degeneration, Failure to thrive, Degeneration of anterior horn cells, Peripheral axonal de... OMIM:604320
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Angioedema, Hereditary, 1
Axonal degeneration, Peripheral axonal neuropathy, Hypoesthesia OMIM:106100
Adrenomyeloneuropathy
Spastic gait, Distal sensory impairment, Axonal degeneration, Dysesthesia, Atrophy of the spinal ... ORPHA:139399
De Sanctis-Cacchione Syndrome
Optic atrophy, Cerebral atrophy, Global brain atrophy, Scissor gait, Axonal degeneration, Ataxia,... OMIM:278800
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Spastic gait, Dysdiadochokinesis, Scoliosis, Impaired vibration sensation in the l... OMIM:607259
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Optic neuropathy, Diffuse cerebellar atrophy, Neurodeg... ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy OMIM:616811
Spastic Paraplegia Type 7
Optic atrophy, Spastic gait, Scoliosis, Impaired vibration sensation in the lower limbs, Cerebell... ORPHA:99013
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Axonal degeneration, Thoracic kyphosis, Cerebellar atrophy, ... ORPHA:909
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration OMIM:609242
Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Motor axonal ne... ORPHA:35689

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 Spg7

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 Spg7.

No publications found that use IMPC mice or data for Spg7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Spg7tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Spg7tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Spg7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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