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Allele : Ap1b1<b2b1660Clo> adaptor protein complex AP-1, beta 1 subunit; Bench to Bassinet Program (B2B/CVDC), mutation 1660 Cecilia Lo
Primary Identifier  MGI:5433323 Allele Type  Chemically induced (ENU)
Gene  Ap1b1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Laterality defect phenotypes: Heterotaxy and situs inversus totalis with left pulmonary isomerism, hypoplastic spleen/asplenia, abnormal bilateral inferior vena cava (IVC)
Noncardiac phenotype: Malaligned sternovertebrae, dyskinetic/immotile respiratory cilia

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Codes Code Description
191 Heterotaxy Syndrome
2810 Inferior vena cava anomaly
4771 Asplenia

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide position 1094 in exon 9 of the cDNA (c.1094T>C, NM_007454). This changes the valine residue to alanine at position 365 of the encoded protein (p.V365A).
  • mutations:
  • Single point mutation
  • synonyms:
  • Pistachio,
  • Pistachio
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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