About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gnetm1Dar
targeted mutation 1, Daniel Darvish
MGI:3713799
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gnetm1Dar/Gnetm1Dar involves: C57BL/6J MGI:3713817


Genotype
MGI:3713817
hm1
Allelic
Composition
Gnetm1Dar/Gnetm1Dar
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnetm1Dar mutation (1 available); any Gne mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die between P1 and P3 days after birth, with only one male mouse surviving beyond weaning (P21); however, normal ratios are observed at E17-E19, indicating no embryonic lethality
• when mice are fed 5 mg N-acetylmannosamine (ManNAc) per ml water during matings, 12 homozygous pups survive beyond P3; 9/12 die between P6 and P12, with continued ManNAc treatment (until P21)
• the survivors remain smaller than littermates

growth/size/body
• by P2, animals are smaller than littermates, weighing only 70-100% of controls
• surviving pups with ManNAc treatment remain 70-100% weight of controls after birth

renal/urinary system
• at P2, kidneys display petechial hemorrhages
• red blood cell infiltrates are seen in the proximal and distal convoluted tubules and the collecting ducts
• all mice dying by P3 show increased urinary protein
• single male mouse surviving past weaning shows increased urinary protein (>500 mg/dl protein), indicating renal disease
• glomeruli contain red blood cell infiltrates in Bowman space; 64% are affected compared to 2% in heterozygotes and 4% of wild-type kidneys
• reduced infiltrates are observed in animals following ManNAc treatment
• at P2, homozygotes exhibit podocytopathy likely due to hyposialylation of specific membrane glycoproteins
• at P2, podocyte foot processes are largely fused
• at P2, podocyte foot processes are flattened and largely fused with only a few wide foot processes remaining
• with ManNAc treatment, there is less podocyte flattening and fusion in mutant kidneys
• at P2, filtration slits are reduced in number, abnormal in shape and position, and exhibit formation of tight junction-like structures
• number of filtration slits is improved with ManNAc treatment, although some still form tight junctions
• at P2, the GBM displays segmental splitting of the lamina densa due to hyposialylation
• GBM integrity is improved with ManNAc treatment, although occasional segmental splitting is still observed
• single surviving male homozygote euthanized at 8.5 months showed kidney changes consistent with glomerulopathies
• single surviving male homozygote euthanized at 8.5 months showed severe bilateral hydronephrosis
• red blood cell infiltrates are observed in proximal and distal convoluted tubules and collecting ducts
• at P2, kidneys appear normal in size and shape, but histologically show cystic tubular dilatation
• with ManNAc treatment, there are fewer cystic tubular dilatations observed in cortex and medulla at P2

cardiovascular system
• at P2, kidneys display petechial hemorrhages
• red blood cell infiltrates are seen in the proximal and distal convoluted tubules and the collecting ducts

homeostasis/metabolism
• single male mouse surviving past weaning shows elevated BUN levels (39 mg/dl versus 21 mg/dl in wild-type controls)
• however, other serum metabolites, including creatinine and creatine kinase, are within normal range
• all mice dying by P3 show increased urinary protein
• single male mouse surviving past weaning shows increased urinary protein (>500 mg/dl protein), indicating renal disease

muscle
N
• homozygotes show no morphological abnormalities in skeletal muscle compared to control littermates
• no abnormalities are observed in other tissues, such as heart or liver

behavior/neurological
• at P2, a prominent milkspot is sometimes absent





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/19/2024
MGI 6.24
The Jackson Laboratory