Phenotypes associated with this allele

• Allele Symbol: Cask^{Tg(Bnlf1)1Wln}
• Allele Name: transgene insertion 1, Joanna B Wilson
• Allele ID: MGI:2180543
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cask^Tg(Bnlf1)1Wln/Cask^Tg(Bnlf1)1Wln	involves: C57BL/6J * CD-1 * DBA/2J	MGI:2659075
hm2	Cask^Tg(Bnlf1)1Wln/Cask^Tg(Bnlf1)1Wln	involves: C57BL/6J * DBA/2J	MGI:2659065
ot3	Cask^Tg(Bnlf1)1Wln/Y	involves: C57BL/6J * DBA/2J	MGI:2659073

Genotype
MGI:2659075

hm1

• Allelic Composition: Cask^{Tg(Bnlf1)1Wln}/Cask^{Tg(Bnlf1)1Wln}
• Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

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

mortality/aging

premature death ( J:18214 )

♀ • Background Sensitivity: when the founder female (an F2 hybrid of C57BL/6J and DBA/2J) is crossed to the outbred CD-1 strain, a few females survive until maturity

♀ • Background Sensitivity: female survival is reduced to less than 2 weeks of age after backcrossing the founder female into the C57BL/6J strain

craniofacial

mandibular retrognathia ( J:18214 )

♀ • a retrognathic mandible is evident at birth

short mandible ( J:18214 )

♀ • a shortened, poorly formed mandible is evident at birth

abnormal maxilla morphology ( J:18214 )

♀ • a poorly formed maxilla is evident at birth

♀ • however, no cleft secondary palates are observed

pointed snout ( J:18214 )

♀

growth/size/body

pointed snout ( J:18214 )

♀

microcephaly ( J:18214 )

♀ • at birth, the head is slightly smaller than normal in all dimensions

postnatal growth retardation ( J:18214 )

♀ • surviving females display severe growth retardation

limbs/digits/tail

kinked tail ( J:18214 )

♀

reproductive system

reduced female fertility ( J:18214 )

♀ • surviving females produce infrequent litters

decreased litter size ( J:18214 )

♀ • surviving females produce small litters, which become extinct in the fourth generation

skeleton

mandibular retrognathia ( J:18214 )

♀ • a retrognathic mandible is evident at birth

short mandible ( J:18214 )

♀ • a shortened, poorly formed mandible is evident at birth

abnormal maxilla morphology ( J:18214 )

♀ • a poorly formed maxilla is evident at birth

♀ • however, no cleft secondary palates are observed

abnormal spine curvature ( J:18214 )

♀ • surviving females exhibit spinal kinks, first evident in the tail but arising at multiple sites

♀ • in the spinal kink regions, the bone is surrounded by an inflammatory cell infiltrate composed of histiocytes and neutrophils; however, no neoplasia is observed and the finding is diagnosed as cellulitis

behavior/neurological

hunched posture ( J:18214 )

♀ • adult females often display a hunched posture, as a result of multiple spinal kinks

vision/eye

delayed eyelid opening ( J:18214 )

♀

integument

focal hair loss ( J:18214 )

♀ • adult females display patchy hair growth

absent hair follicles ( J:18214 )

♀ • in adulthood, some areas in the coat are devoid of hair follicles

epidermal hyperplasia ( J:18214 )

♀

wrinkled skin ( J:18214 )

♀ • surviving females display a remarkably wrinkled skin prior to fur growth

Genotype
MGI:2659065

hm2

• Allelic Composition: Cask^{Tg(Bnlf1)1Wln}/Cask^{Tg(Bnlf1)1Wln}
• Genetic Background: involves: C57BL/6J * DBA/2J

mortality/aging

postnatal lethality ( J:18214 )

♀ • female animals die within 2 weeks after birth

growth/size/body

pointed snout ( J:18214 )

♀

microcephaly ( J:18214 )

♀ • at birth, the head is slightly smaller than normal in all dimensions

postnatal growth retardation ( J:18214 )

♀ • females display severe growth retardation

craniofacial

mandibular retrognathia ( J:18214 )

♀ • a retrognathic mandible is evident at birth

short mandible ( J:18214 )

♀ • a shortened, poorly formed mandible is evident at birth

abnormal maxilla morphology ( J:18214 )

♀ • a poorly formed maxilla is evident at birth

♀ • however, no cleft secondary palates are observed

pointed snout ( J:18214 )

♀

skeleton

mandibular retrognathia ( J:18214 )

♀ • a retrognathic mandible is evident at birth

short mandible ( J:18214 )

♀ • a shortened, poorly formed mandible is evident at birth

abnormal maxilla morphology ( J:18214 )

♀ • a poorly formed maxilla is evident at birth

♀ • however, no cleft secondary palates are observed

abnormal spine curvature ( J:18214 )

♀ • females exhibit spinal kinks, first evident in the tail but arising at multiple sites

limbs/digits/tail

kinked tail ( J:18214 )

♀

vision/eye

delayed eyelid opening ( J:18214 )

♀

Genotype
MGI:2659073

ot3

• Allelic Composition: Cask^{Tg(Bnlf1)1Wln}/Y
• Genetic Background: involves: C57BL/6J * DBA/2J

mortality/aging

neonatal lethality, complete penetrance ( J:18214 )

♂ • all males are liveborn but die within 24 hrs of birth

craniofacial

mandibular retrognathia ( J:18214 )

♂ • a retrognathic mandible is evident at birth

short mandible ( J:18214 )

♂ • a shortened, poorly formed mandible is evident at birth

abnormal maxilla morphology ( J:18214 )

♂ • a poorly formed maxilla is evident at birth

abnormal secondary palate development ( J:18214 )

♂ • posteriorly, the anlage of the muscles of the soft palate is found within the small cleft palatal shelves

abnormal palatal shelf morphology ( J:18214 )

• the oral and medial edge epithelial regions are covered by highly keratinized epithelia

• anteriorly, the mesenchyme in the tips of small palatal shelves contains a circular condensation of preosseous tissues and blood vessels

palatal shelves fail to meet at midline ( J:18214 )

♂ • the palatal shelves are horizontal and abnormally small, extending approx. one-third the width of the palate

decreased palatal shelf size ( J:18214 )

♂

cleft secondary palate ( J:18214 )

♂ • all newborn males display cleft secondary palates

♂ • cleft palates are putatively attributed to growth retardation of the palatal shelves or structural separation

♂ • no cleft secondary palates are observed in females that survive to maturity

pointed snout ( J:18214 )

♂

skeleton

mandibular retrognathia ( J:18214 )

♂ • a retrognathic mandible is evident at birth

short mandible ( J:18214 )

♂ • a shortened, poorly formed mandible is evident at birth

abnormal maxilla morphology ( J:18214 )

♂ • a poorly formed maxilla is evident at birth

digestive/alimentary system

abnormal secondary palate development ( J:18214 )

♂ • posteriorly, the anlage of the muscles of the soft palate is found within the small cleft palatal shelves

abnormal palatal shelf morphology ( J:18214 )

• the oral and medial edge epithelial regions are covered by highly keratinized epithelia

• anteriorly, the mesenchyme in the tips of small palatal shelves contains a circular condensation of preosseous tissues and blood vessels

palatal shelves fail to meet at midline ( J:18214 )

♂ • the palatal shelves are horizontal and abnormally small, extending approx. one-third the width of the palate

decreased palatal shelf size ( J:18214 )

♂

cleft secondary palate ( J:18214 )

♂ • all newborn males display cleft secondary palates

♂ • cleft palates are putatively attributed to growth retardation of the palatal shelves or structural separation

♂ • no cleft secondary palates are observed in females that survive to maturity

behavior/neurological

abnormal suckling behavior ( J:18214 )

♂ • newborn males are unable to nurse, as shown by the absence of milk in their stomachs

growth/size/body

abnormal secondary palate development ( J:18214 )

♂ • posteriorly, the anlage of the muscles of the soft palate is found within the small cleft palatal shelves

abnormal palatal shelf morphology ( J:18214 )

• the oral and medial edge epithelial regions are covered by highly keratinized epithelia

• anteriorly, the mesenchyme in the tips of small palatal shelves contains a circular condensation of preosseous tissues and blood vessels

palatal shelves fail to meet at midline ( J:18214 )

♂ • the palatal shelves are horizontal and abnormally small, extending approx. one-third the width of the palate

decreased palatal shelf size ( J:18214 )

♂

cleft secondary palate ( J:18214 )

♂ • all newborn males display cleft secondary palates

♂ • cleft palates are putatively attributed to growth retardation of the palatal shelves or structural separation

♂ • no cleft secondary palates are observed in females that survive to maturity

pointed snout ( J:18214 )

♂

microcephaly ( J:18214 )

♂ • at birth, the head is slightly smaller than normal in all dimensions