|  Help  |  About  |  Contact Us

Allele : Morc2a<em1Snupy> microrchidia 2A; endonuclease-mediated mutation 1, Su Cheong Yeom

Primary Identifier  MGI:7579187 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Morc2a
Is Recombinase  false Is Wild Type  false
molecularNote  Serine codon 87 (TCA) in exon 6 was changed to leucine (TTA) (c.C260T, p.S87L) using sgRNAs (targeting AGTGGACTCAGGAGTTCTTTTGG and TTTTGGCTGACTTCCCAAACTGG) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with Charcot-Marie-Tooth disease type 2Z (CMT2Z) and developmental delay, impaired growth, dysmorphic facies and axonal neuropathy (DIGFAN).
  • mutations:
  • Single point mutation
  • synonyms:
  • Morc2a S87L,
  • Morc2a S87L
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele