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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mafbtm1Jeng
targeted mutation 1, James Douglas Engel
MGI:3663168
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Mafbtm1Jeng/Mafbtm1Jeng involves: 129P2/OlaHsd * C57BL/6J MGI:3663257
cn2
 		Mafbtm1.1Good/Mafbtm1Jeng
Foxg1tm1(cre)Skm/Foxg1+ 		involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * SJL MGI:5581686
cn3
 		Mafbtm1.1Good/Mafbtm1Jeng
Tg(Neurog1-cre)1Jejo/0 		involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * SJL MGI:5581687


Genotype
MGI:3663257
hm1
Allelic
Composition		 Mafbtm1Jeng/Mafbtm1Jeng
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mafbtm1Jeng mutation (0 available); any Mafb mutation (20 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:111415 )
• homozygotes are born at the expected ratios but all die within 24 hours of birth

homeostasis/metabolism
increased circulating creatinine level ( J:111415 )
• homozygous neonates show significantly higher serum creatinine concentrations (0.567 mg/dl) than heterozygous littermates (0.400 mg/dl)

renal/urinary system
kidney hemorrhage ( J:111415 )
• neonatal kidneys display punctate surface hemorrhages
increased renal tubule apoptosis ( J:111415 )
• significantly higher numbers of apoptotic nuclei are observed in homozygous kidneys vs heterozygous kidneys; increased numbers are predominantly found in the renal epithelium rather than in the glomerular region
abnormal kidney morphology ( J:111415 )
• kidneys have a dystrophic appearance
kidney cortex cyst ( J:111415 )
• neonatal kidneys display cyst formation, primarily in the area of proximal tubuli
fused podocyte foot processes ( J:111415 )
• mutant kidneys have reduced number of normal foot processes
• podocyte foot processes are fused and do not interdigitate whereas kidneys from wild-type and heterozygous mice show discrete foot processes
decreased renal glomerulus number ( J:111415 )
• mutant kidneys have fewer mature glomeruli
abnormal renal tubule morphology ( J:111415 )
• kidneys display both proximal and distal tubular dysgenesis
anuria ( J:111415 )
• no urine collection in bladder is observed

cardiovascular system
kidney hemorrhage ( J:111415 )
• neonatal kidneys display punctate surface hemorrhages

hearing/vestibular/ear
inner ear cyst ( J:111415 )
• homozygous neonates display cystic malformation of the inner ear; heterozygotes do not

immune system
immune system phenotype ( J:111415 )
N
• macrophage phagocytic activity is normal in mutants

cellular
increased renal tubule apoptosis ( J:111415 )
• significantly higher numbers of apoptotic nuclei are observed in homozygous kidneys vs heterozygous kidneys; increased numbers are predominantly found in the renal epithelium rather than in the glomerular region

growth/size/body
inner ear cyst ( J:111415 )
• homozygous neonates display cystic malformation of the inner ear; heterozygotes do not
kidney cortex cyst ( J:111415 )
• neonatal kidneys display cyst formation, primarily in the area of proximal tubuli




Genotype
MGI:5581686
cn2
Allelic
Composition		 Mafbtm1.1Good/Mafbtm1Jeng
Foxg1tm1(cre)Skm/Foxg1+
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxg1tm1(cre)Skm mutation (2 available); any Foxg1 mutation (29 available)
Mafbtm1.1Good mutation (0 available); any Mafb mutation (20 available)
Mafbtm1Jeng mutation (0 available); any Mafb mutation (20 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

respiratory system
apnea ( J:207904 )
• central apnea

hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:207904 )
N
• inner ear develops normally

nervous system
nervous system phenotype ( J:207904 )
N
• spiral ganglion neuron neurite organization is normal




Genotype
MGI:5581687
cn3
Allelic
Composition		 Mafbtm1.1Good/Mafbtm1Jeng
Tg(Neurog1-cre)1Jejo/0
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mafbtm1.1Good mutation (0 available); any Mafb mutation (20 available)
Mafbtm1Jeng mutation (0 available); any Mafb mutation (20 available)
Tg(Neurog1-cre)1Jejo mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
mortality/aging ( J:207904 )
N
• mice survive through adulthood

nervous system
nervous system phenotype ( J:207904 )
N
• spiral ganglion neuron (SGN) processes organization and density are normal
• efferent innervation of cochlea is normal
• SGN firing properties are normal
abnormal inner hair cell synaptic ribbon morphology ( J:207904 )
• some are abnormally small or misshapen
• reduced numbers at P15
abnormal cochlear ganglion morphology ( J:207904 )
• failure of post-synpatic differentiation near the basolateral pole of the inner hair cells by P6
• impaired presynaptic development

hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:207904 )
N
• distortion product otoacoustic emissions are normal
abnormal inner hair cell synaptic ribbon morphology ( J:207904 )
• some are abnormally small or misshapen
• reduced numbers at P15
increased or absent threshold for auditory brainstem response ( J:207904 )
• dampened auditory brainstem response (ABR) waveforms and elevated auditory thresholds
• ABR wave I is delayed with increased latency compared to in control mice




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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory