|Institutional Source||Beutler Lab|
|Gene Name||neuronal cell adhesion molecule|
|Synonyms||C030017F07Rik, Bravo, C130076O07Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7757 (G1)|
|Chromosomal Location||44328885-44601964 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||C to T at 44549898 bp (GRCm38)|
|Amino Acid Change||Glutamine to Stop codon at position 25 (Q25*)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000219939] [ENSMUST00000220123]|
AA Change: Q25*
|Meta Mutation Damage Score||0.9756|
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nrcam||
(F):5'- ATCATCTCAAGTACAGGGCCTG -3'
(R):5'- TCCGCATTTGAGGGGAATG -3'
(F):5'- TACAGGGCCTGAGCATGAC -3'
(R):5'- AATGCGTTTGAGATGAGGGTTTACC -3'