Phenotypes associated with this allele

• Allele Symbol: Hkdc1^em2Xjz
• Allele Name: endonuclease-mediated mutation 2, Xianjun Zhu
• Allele ID: MGI:6379690
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hkdc1^em2Xjz/Hkdc1^em2Xjz	C57BL/6J-Hkdc1^em2Xjz	MGI:6384926
ht2	Hkdc1^em1Xjz/Hkdc1^em2Xjz	C57BL/6J-Hkdc1^em1Xjz Hkdc1^em2Xjz	MGI:6384929

Genotype
MGI:6384926

hm1

• Allelic Composition: Hkdc1^em2Xjz/Hkdc1^em2Xjz
• Genetic Background: C57BL/6J-Hkdc1^em2Xjz

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

vision/eye

vision/eye phenotype ( J:266978 )

N • normal retinal cone cells at age 9 months

thin retina inner nuclear layer ( J:266978 )

• normal thickness at age 9 and 11 months

• reduced thickness at age 17 months

thin retina outer nuclear layer ( J:266978 )

• reduced thickness at age 17 months

• normal thickness at age 9 and 11 months

retina outer nuclear layer degeneration ( J:266978 )

• reduced thickness at age 17 months

abnormal retina photoreceptor layer morphology ( J:266978 )

• rhodopsin mis-localized to inner segment and ONL

decreased a-wave amplitude ( J:266978 )

• 50% reduction using scotopic ERG at age 9 months

• normal using photopic ERG at age 9 months

decreased b-wave amplitude ( J:266978 )

• normal using photopic ERG at age 9 months

• significant reduction using scotopic ERG at age 9 months

Genotype
MGI:6384929

ht2

• Allelic Composition: Hkdc1^em1Xjz/Hkdc1^em2Xjz
• Genetic Background: C57BL/6J-Hkdc1^em1Xjz Hkdc1^em2Xjz

vision/eye

vision/eye phenotype ( J:266978 )

N • normal retinal cone cells at age 9 months

thin retina inner nuclear layer ( J:266978 )

• normal thickness at age 9 and 11 months

• reduced thickness at age 17 months

thin retina outer nuclear layer ( J:266978 )

• reduced thickness at age 17 months

• normal thickness at age 9 and 11 months

retina outer nuclear layer degeneration ( J:266978 )

• reduced thickness at age 17 months

abnormal retina photoreceptor layer morphology ( J:266978 )

• rhodopsin mis-localized to inner segment and ONL

decreased a-wave amplitude ( J:266978 )

• 50% reduction using scotopic ERG at age 9 months

• normal using photopic ERG at age 9 months

decreased b-wave amplitude ( J:266978 )

• normal using photopic ERG at age 9 months

• significant reduction using scotopic ERG at age 9 months