Mdfic^em1Nlh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mdfic^em1Nlh
• Name: MyoD family inhibitor domain containing; endonuclease-mediated mutation 1, Natasha L Harvey
• MGI ID: MGI:7638754
• Synonyms: Mdfic^M131fs*
• Gene: Mdfic Location: Chr6:15720660-15802168 bp, + strand Genetic Position: Chr6, 6.85 cM
• Alliance: Mdfic^em1Nlh page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting the region between c.379G and c.396C generated deletion alleles. This allele contains a 2 bp deletion this region resulting in a frameshift and premature stop codon. This mimics the common mutation in humans c.391dup (p.Met131Asnfs*3). (J:326462)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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ht1  Disease Model	Mdfic^em1Nlh/Mdfic^em2Nlh	C57BL/6J-Mdfic^em1Nlh/Mdfic^em2Nlh

Phenotypes:

Affected Systems	ht1
show or hide all annotated terms
behavior/neurological	√
hunched posture	√
hypoactivity	√
cardiovascular system	√
abnormal lymph circulation	√
homeostasis/metabolism	√
chylothorax	√
immune system	√
abnormal lymph circulation	√
abnormal lymphatic vessel morphology	√
mortality/aging	√
premature death	√
postnatal lethality, incomplete penetrance	√
respiratory system	√
chylothorax	√
respiratory distress	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht1
central conducting lymphatic anomaly IDs central conducting lymphatic anomaly       DOID:0081030 OMIM:617300 Close	√

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mdfic Mutation: 26 strains or lines available

References

• Original: J:326462 Byrne AB, et al., Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci Transl Med. 2022 Mar 2;14(634):eabm4869
• All: 1 reference(s)