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Gene: Spg7 MGI:2385906

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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)

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IMPC Data Collections

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

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.

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 7, Autosomal Recessive
Spastic ataxia, Waddling gait, Cerebellar atrophy, Degeneration of the lateral corticospinal trac... OMIM:607259
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Impaired vibration sensation ... ORPHA:99013
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... ORPHA:35689

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 vibratory sensation, Ataxia, Impaired proprioception, Scoliosis OMIM:176250
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation OMIM:212890
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Scoliosis OMIM:616155
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Kyphoscol... OMIM:214400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Distal sensory impai... OMIM:604484
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... OMIM:302800
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Kyphoscoliosis, Chorea, Axonal degeneration, Cerebral atr... OMIM:604168
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... ORPHA:90103
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Falls, Scoliosis, Axonal degeneration OMIM:618811
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired ... ORPHA:88628
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Peripheral axonal degeneration, Decreased number of peripheral my... OMIM:607706
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Axonal degeneration OMIM:618138
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... OMIM:620378
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... OMIM:615490
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Peripheral axonal degeneration, Impaired pain sensation, Impaired d... ORPHA:101097
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Degeneration of a... 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
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tract... ORPHA:139399
De Sanctis-Cacchione Syndrome
Ataxia, Axonal degeneration, Scissor gait, Optic atrophy, Cerebral atrophy, Choreoathetosis, Glob... OMIM:278800
Spastic Paraplegia 7, Autosomal Recessive
Spastic ataxia, Waddling gait, Cerebellar atrophy, Degeneration of the lateral corticospinal trac... OMIM:607259
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global brai... ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy OMIM:616811
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Impaired vibration sensation ... ORPHA:99013
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Abnormality of the vertebral ... ORPHA:909
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... 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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