129S5/SvEvBrd-Lmx1absd/H

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EMMA IDEM:13785
Citation informationRRID:IMSR_EM:13785 

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International strain name129S5/SvEvBrd-Lmx1absd/H
Alternative nameBelly spot and deafness, Lmx1a-bsd
Strain typeSpontaneous
Allele/Transgene symbolLmx1absd
Gene/Transgene symbolLmx1a

Information from provider

ProviderKaren Steel
Provider affiliationWolfson Centre for Age-Related Diseases, King
Genetic informationSee Steffes G. et al., 2012 (PubMed ID:23226461). The bsd mutation is a deletion affecting the Lmx1a gene, comprising approximately 13.48 Kb (7.89 Kb upstream and 5.36 Kb downstream of Lmx1a exon 3). The consequences of translating Lmx1a mRNA without exon 3 (exon skipping) would result in truncation of LMX1A protein after 91 amino acids. Exon 3 is 233 bp long and it has a start phase of 2 and an end phase of 1 for its coding sequence. Thus, skipping this exon in the mRNA would result in a frameshifted reading for exon 4, resulting in turn in incorrect amino acids in positions 89 to 91 (FAV to QKR) and the termination of protein translation at a first stop codon in the position of amino acid 92. The bsd mutation arose on a 129S5/SvEvBrd genetic background.
Phenotypic informationHomozygous:
Homozygous bsd mice are small, show circling and head-bobbing behaviour, display white belly patches, have short/blunt tails, and are profoundly deaf.

Heterozygous:
No obvious defects.
Breeding historyThis line was bred for several generations on a 129S5/SvEvBrd genetic background.
References
  • Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects.;Steffes Georg, Lorente-Cánovas Beatriz, Pearson Selina, Brooker Rachael H, Spiden Sarah, Kiernan Amy E, Guénet Jean-Louis, Steel Karen P, ;2012;PloS one;7;e51065; 23226461
Homozygous fertilenot known
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI phenotypes (gene matching)
  • abnormal inner ear morphology / MGI
  • abnormal cochlea morphology / MGI
  • abnormal inner ear vestibule morphology / MGI
  • abnormal membranous labyrinth morphology / MGI
  • absent semicircular canals / MGI
  • abnormal interparietal bone morphology / MGI
  • abnormal parietal bone morphology / MGI
  • abnormal cell proliferation / MGI
  • belly spot / MGI
  • synostosis / MGI
  • kinked tail / MGI
  • short tail / MGI
  • decreased brain size / MGI
  • abnormal hippocampus development / MGI
  • abnormal cerebellum morphology / MGI
  • small cerebellum / MGI
  • abnormal cerebellum development / MGI
  • abnormal cerebellar foliation / MGI
  • abnormal cerebellum posterior vermis morphology / MGI
  • abnormal roof plate morphology / MGI
  • abnormal rhombomere morphology / MGI
  • abnormal glossopharyngeal nerve morphology / MGI
  • abnormal glossopharyngeal ganglion morphology / MGI
  • uterus hypoplasia / MGI
  • decreased body size / MGI
  • ataxia / MGI
  • circling / MGI
  • bidirectional circling / MGI
  • hyperactivity / MGI
  • abnormal motor coordination/balance / MGI
  • impaired righting response / MGI
  • abnormal placing response / MGI
  • hydroencephaly / MGI
  • infertility / MGI
  • male infertility / MGI
  • female infertility / MGI
  • deafness / MGI
  • postnatal lethality / MGI
  • premature death / MGI
  • abnormal neural tube morphology / MGI
  • abnormal fertility/fecundity / MGI
  • abnormal semicircular canal morphology / MGI
  • belted / MGI
  • altered righting response / MGI
  • white spotting / MGI
  • absent otoliths / MGI
  • no phenotypic analysis / MGI
  • spina bifida / MGI
  • abnormal cell migration / MGI
  • abnormal ear development / MGI
  • abnormal bony labyrinth / MGI
  • absent vestibular saccule / MGI
  • absent utricle / MGI
  • abnormal cochlear inner hair cell morphology / MGI
  • abnormal cochlear labyrinth morphology / MGI
  • abnormal vestibular labyrinth morphology / MGI
  • syndromic hearing loss / MGI
  • abnormal vertebral arch development / MGI
  • head tossing / MGI
  • abnormal cell physiology / MGI
  • dilated endolymphatic duct / MGI
  • dilated endolymphatic sac / MGI
  • abnormal otic vesicle development / MGI
  • abnormal vestibular saccule morphology / MGI
  • abnormal utricle morphology / MGI
  • abnormal tail development / MGI
  • inner ear hypoplasia / MGI
  • impaired hearing / MGI
  • absent pinna reflex / MGI
  • abnormal hippocampus CA3 region morphology / MGI
  • abnormal hippocampus pyramidal cell layer / MGI
  • short scala media / MGI
  • bleb / MGI
  • abnormal resting posture / MGI
  • reduced cerebellar foliation / MGI
  • abnormal neuron differentiation / MGI
  • mortality/aging / MGI
  • prenatal lethality, complete penetrance / MGI
  • preweaning lethality, incomplete penetrance / MGI
  • decreased dopaminergic neuron number / MGI
  • increased or absent threshold for auditory brainstem response / MGI
  • abnormal rhombomere 3 morphology / MGI
  • abnormal rhombomere 4 morphology / MGI
  • abnormal rhombomere 5 morphology / MGI

Literature references

  • Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects.;Steffes Georg, Lorente-Cánovas Beatriz, Pearson Selina, Brooker Rachael H, Spiden Sarah, Kiernan Amy E, Guénet Jean-Louis, Steel Karen P, ;2012;PloS one;7;e51065; 23226461

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