Phenotypes associated with this allele

• Allele Symbol: Lrrc56^em1Cya
• Allele Name: endonuclease-mediated mutation 1, Cyagen Biosciences
• Allele ID: MGI:8276963
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lrrc56^em1Cya/Lrrc56^em1Cya	C57BL/6JCya-Lrrc56^em1Cya	MGI:8276995

Genotype
MGI:8276995

hm1

• Allelic Composition: Lrrc56^em1Cya/Lrrc56^em1Cya
• Genetic Background: C57BL/6JCya-Lrrc56^em1Cya

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal gait ( J:377011 )

• mice with growth retardation display abnormal gait

cardiovascular system

dextrocardia ( J:377011 )

• 50% of 8-week-old mice show rightward orientation of the cardiac apex compared to the normal leftward orientation

• despite dextrocardia, the cardiac structure, including major blood vessels and cardiac chambers are normal and no evidence of cardiac dysfunction is seen in echocardiography

cellular

abnormal respiratory motile cilium morphology ( J:377011 )

• while airway ciliary density is normal and cilia maintain the normal 9+2 microtubule structure, tracheal ciliary length is shorter than in wild-type mice

abnormal sperm flagellum morphology ( J:377011 )

• sperm show multiple morphological abnormalities of flagella, including shortened tails, coiled tails, and irregular tail structures

• however, sperm heads are normal

abnormal sperm axoneme morphology ( J:377011 )

• the 9 + 2 axonemal arrangement of the sperm tails is disorganized

coiled sperm flagellum ( J:377011 )

short sperm flagellum ( J:377011 )

oligozoospermia ( J:377011 )

• reduction in sperm count

• epididymal lumen is almost devoid of mature spermatozoa

immotile sperm ( J:377011 )

• complete sperm immotility

craniofacial

prominent forehead ( J:377011 )

• mice with growth retardation display pronounced frontal protrusion and bulging forehead

round head ( J:377011 )

digestive/alimentary system

right-sided stomach ( J:377011 )

• neonates exhibit a right-sided gastric pouch contrary to the normal left-sided arrangement

growth/size/body

prominent forehead ( J:377011 )

• mice with growth retardation display pronounced frontal protrusion and bulging forehead

round head ( J:377011 )

postnatal growth retardation ( J:377011 )

• by P10, approximately 10% of mice exhibit growth retardation

heterotaxia ( J:377011 )

• approximately 54% of mice exhibit laterality defects

right-sided stomach ( J:377011 )

• neonates exhibit a right-sided gastric pouch contrary to the normal left-sided arrangement

situs inversus totalis ( J:377011 )

• 36% of mice exhibit complete situs inversus totalis

visceral organ asymmetry ( J:377011 )

• 18% of mice exhibit visceral heterotaxy

enlarged spleen ( J:377011 )

• in some mice

hematopoietic system

abnormal spleen morphology ( J:377011 )

• enlarged and lobulated spleens are seen in some mice

enlarged spleen ( J:377011 )

• in some mice

immune system

abnormal spleen morphology ( J:377011 )

• enlarged and lobulated spleens are seen in some mice

enlarged spleen ( J:377011 )

• in some mice

nervous system

hydrocephaly ( J:377011 )

• mice with growth retardation exhibit hydrocephalus, as indicated by dilation of the lateral ventricles

dilated lateral ventricle ( J:377011 )

thin cerebral cortex ( J:377011 )

• mice with growth retardation exhibit reduced cortical thickness (brain cortex is shrunk due to ventricular widening and compression), indicative of aberrant cerebrospinal fluid flow

reproductive system

abnormal sperm flagellum morphology ( J:377011 )

• sperm show multiple morphological abnormalities of flagella, including shortened tails, coiled tails, and irregular tail structures

• however, sperm heads are normal

abnormal sperm axoneme morphology ( J:377011 )

• the 9 + 2 axonemal arrangement of the sperm tails is disorganized

coiled sperm flagellum ( J:377011 )

short sperm flagellum ( J:377011 )

oligozoospermia ( J:377011 )

• reduction in sperm count

• epididymal lumen is almost devoid of mature spermatozoa

immotile sperm ( J:377011 )

• complete sperm immotility

male infertility ( J:377011 )

• males are infertile

• however, males have normal testis size and normal ratio of testicular weight to body weight, and show normal mating behaviors and produce coital plugs

respiratory system

abnormal respiratory motile cilium morphology ( J:377011 )

• while airway ciliary density is normal and cilia maintain the normal 9+2 microtubule structure, tracheal ciliary length is shorter than in wild-type mice

impaired mucociliary clearance ( J:377011 )

• nasal cavity shows mucus accumulation, indicative of impaired mucociliary clearance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 39		DOID:0111854	OMIM:618254	J:377011